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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: 14-91170188-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=91170188&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 91170188,
"ref": "C",
"alt": "T",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_024952.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "NM_001102368.3",
"protein_id": "NP_001095838.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 621,
"cds_start": 443,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256324.15",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102368.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000256324.15",
"protein_id": "ENSP00000256324.9",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 621,
"cds_start": 443,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001102368.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256324.15"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000521077.6",
"protein_id": "ENSP00000430137.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 581,
"cds_start": 443,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521077.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000517518.5",
"protein_id": "ENSP00000428652.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 430,
"cds_start": 443,
"cds_end": null,
"cds_length": 1295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517518.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000523894.5",
"protein_id": "ENSP00000429459.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 151,
"cds_start": 443,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523894.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.441+2C>T",
"hgvs_p": null,
"transcript": "ENST00000522322.5",
"protein_id": "ENSP00000427953.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": null,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522322.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.441+2C>T",
"hgvs_p": null,
"transcript": "ENST00000523771.5",
"protein_id": "ENSP00000429655.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": null,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523771.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.441+2C>T",
"hgvs_p": null,
"transcript": "ENST00000523816.5",
"protein_id": "ENSP00000428974.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": null,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523816.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "n.146C>T",
"hgvs_p": null,
"transcript": "ENST00000517306.5",
"protein_id": "ENSP00000428760.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000517306.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "n.257+2810C>T",
"hgvs_p": null,
"transcript": "ENST00000519994.5",
"protein_id": "ENSP00000429967.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000519994.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000887142.1",
"protein_id": "ENSP00000557201.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 665,
"cds_start": 443,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887142.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000947870.1",
"protein_id": "ENSP00000617929.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 665,
"cds_start": 443,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947870.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000887124.1",
"protein_id": "ENSP00000557183.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 653,
"cds_start": 443,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887124.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000947813.1",
"protein_id": "ENSP00000617872.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 653,
"cds_start": 443,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947813.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000887126.1",
"protein_id": "ENSP00000557185.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 635,
"cds_start": 443,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887126.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000887156.1",
"protein_id": "ENSP00000557215.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 635,
"cds_start": 443,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887156.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000947854.1",
"protein_id": "ENSP00000617913.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 635,
"cds_start": 443,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947854.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000947865.1",
"protein_id": "ENSP00000617924.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 635,
"cds_start": 443,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947865.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000947874.1",
"protein_id": "ENSP00000617933.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 635,
"cds_start": 443,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947874.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.518C>T",
"hgvs_p": "p.Ala173Val",
"transcript": "ENST00000947824.1",
"protein_id": "ENSP00000617883.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 634,
"cds_start": 518,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947824.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000947833.1",
"protein_id": "ENSP00000617892.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 625,
"cds_start": 443,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947833.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGLUCY",
"gene_hgnc_id": 20498,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000887128.1",
"protein_id": "ENSP00000557187.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 623,
"cds_start": 443,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}