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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: 12-98888968-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=98888968&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 98888968,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001352186.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.2779-56832T>A",
"hgvs_p": null,
"transcript": "NM_001352186.2",
"protein_id": "NP_001339115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": null,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683438.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352186.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.2779-56832T>A",
"hgvs_p": null,
"transcript": "ENST00000683438.2",
"protein_id": "ENSP00000508105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": null,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001352186.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683438.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.2779-56832T>A",
"hgvs_p": null,
"transcript": "ENST00000547776.6",
"protein_id": "ENSP00000449629.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1248,
"cds_start": null,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547776.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.1507-56832T>A",
"hgvs_p": null,
"transcript": "ENST00000547010.5",
"protein_id": "ENSP00000448512.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": null,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547010.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.592-56832T>A",
"hgvs_p": null,
"transcript": "ENST00000550778.5",
"protein_id": "ENSP00000448744.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": null,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550778.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.457-56832T>A",
"hgvs_p": null,
"transcript": "ENST00000549493.6",
"protein_id": "ENSP00000448203.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": null,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549493.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.457-56832T>A",
"hgvs_p": null,
"transcript": "ENST00000546960.5",
"protein_id": "ENSP00000447839.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": null,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546960.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.457-56832T>A",
"hgvs_p": null,
"transcript": "ENST00000550693.6",
"protein_id": "ENSP00000447999.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": null,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550693.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.457-56832T>A",
"hgvs_p": null,
"transcript": "ENST00000546568.5",
"protein_id": "ENSP00000448205.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": null,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546568.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.457-56832T>A",
"hgvs_p": null,
"transcript": "ENST00000549558.6",
"protein_id": "ENSP00000448993.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": null,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549558.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.286-81050T>A",
"hgvs_p": null,
"transcript": "ENST00000549025.6",
"protein_id": "ENSP00000447312.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": null,
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"cds_length": 1074,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000549025.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.2779-56832T>A",
"hgvs_p": null,
"transcript": "NM_001352188.1",
"protein_id": "NP_001339117.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1283,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352188.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.2779-56832T>A",
"hgvs_p": null,
"transcript": "NM_001352187.1",
"protein_id": "NP_001339116.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1260,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352187.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 17,
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"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.2779-56832T>A",
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"transcript": "NM_001352185.1",
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"biotype": "protein_coding",
"feature": "NM_001352185.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.2779-56832T>A",
"hgvs_p": null,
"transcript": "NM_152788.4",
"protein_id": "NP_690001.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_152788.4"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 3,
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"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.457-56832T>A",
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"transcript": "NM_001352198.2",
"protein_id": "NP_001339127.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001352198.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.457-56832T>A",
"hgvs_p": null,
"transcript": "NM_001352205.2",
"protein_id": "NP_001339134.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001352205.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.457-56832T>A",
"hgvs_p": null,
"transcript": "NM_181670.4",
"protein_id": "NP_858056.2",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 510,
"cds_start": null,
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"biotype": "protein_coding",
"feature": "NM_181670.4"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.457-56832T>A",
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"transcript": "NM_001352195.2",
"protein_id": "NP_001339124.1",
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"feature": "NM_001352195.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.457-56832T>A",
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"transcript": "NM_001352196.2",
"protein_id": "NP_001339125.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 3,
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"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.457-56832T>A",
"hgvs_p": null,
"transcript": "NM_001352204.2",
"protein_id": "NP_001339133.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352204.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.457-56832T>A",
"hgvs_p": null,
"transcript": "NM_001352200.2",
"protein_id": "NP_001339129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352200.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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{
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{
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],
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"computational_score_selected": -0.8999999761581421,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.9,
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
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"acmg_by_gene": [
{
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"BP4_Strong"
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"verdict": "Likely_benign",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}