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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-189676588-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189676588&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 189676588,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant,stop_gained",
"transcript": "NM_144708.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "NM_001378068.1",
"protein_id": "NP_001364997.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1434,
"cds_start": 106,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684021.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378068.1"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "ENST00000684021.1",
"protein_id": "ENSP00000507233.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1434,
"cds_start": 106,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378068.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684021.1"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "ENST00000313581.4",
"protein_id": "ENSP00000313513.4",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 1434,
"cds_start": 106,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313581.4"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "NM_144708.3",
"protein_id": "NP_653309.3",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1434,
"cds_start": 106,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144708.3"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "ENST00000520309.5",
"protein_id": "ENSP00000427882.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 1434,
"cds_start": 106,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520309.5"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_011510673.3",
"protein_id": "XP_011508975.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1445,
"cds_start": 106,
"cds_end": null,
"cds_length": 4338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510673.3"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_011510675.3",
"protein_id": "XP_011508977.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1410,
"cds_start": 106,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510675.3"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_011510676.3",
"protein_id": "XP_011508978.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1390,
"cds_start": 106,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510676.3"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_011510677.3",
"protein_id": "XP_011508979.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1372,
"cds_start": 106,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510677.3"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_011510679.3",
"protein_id": "XP_011508981.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1302,
"cds_start": 106,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510679.3"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_011510680.2",
"protein_id": "XP_011508982.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1294,
"cds_start": 106,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510680.2"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_011510681.2",
"protein_id": "XP_011508983.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1294,
"cds_start": 106,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510681.2"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_011510682.3",
"protein_id": "XP_011508984.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1294,
"cds_start": 106,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510682.3"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_017003413.2",
"protein_id": "XP_016858902.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1294,
"cds_start": 106,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003413.2"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_011510686.3",
"protein_id": "XP_011508988.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1276,
"cds_start": 106,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510686.3"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_011510688.2",
"protein_id": "XP_011508990.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1154,
"cds_start": 106,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510688.2"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_047443451.1",
"protein_id": "XP_047299407.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1114,
"cds_start": 106,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443451.1"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_047443452.1",
"protein_id": "XP_047299408.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1091,
"cds_start": 106,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443452.1"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_047443453.1",
"protein_id": "XP_047299409.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1080,
"cds_start": 106,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443453.1"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_047443454.1",
"protein_id": "XP_047299410.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1037,
"cds_start": 106,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443454.1"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_017003417.2",
"protein_id": "XP_016858906.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 914,
"cds_start": 106,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003417.2"
},
{
"aa_ref": "E",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.105dupT",
"hgvs_p": "p.Glu36fs",
"transcript": "XM_024452719.2",
"protein_id": "XP_024308487.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
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"cds_start": 106,
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},
{
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],
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},
{
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],
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000433782.6"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"biotype": "pseudogene",
"feature": "XR_001738640.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"feature": "XR_922865.3"
},
{
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"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
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"feature": "ENST00000433782.6"
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{
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"intron_variant"
],
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"gene_symbol": "ANKAR",
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"feature": "ENST00000441800.5"
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{
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"intron_variant"
],
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"gene_symbol": "ANKAR",
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"transcript": "ENST00000461516.5",
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"biotype": "pseudogene",
"feature": "ENST00000461516.5"
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],
"gene_symbol": "ANKAR",
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"dbsnp": "rs543497565",
"frequency_reference_population": 0.00015563401,
"hom_count_reference_population": 2,
"allele_count_reference_population": 251,
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"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.128,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_144708.3",
"gene_symbol": "ANKAR",
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"effects": [
"frameshift_variant",
"stop_gained"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Glu36fs"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}