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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: 21-33325072-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33325072&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33325072,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001384498.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "NM_000629.3",
"protein_id": "NP_000620.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 557,
"cds_start": 17,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270139.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000629.3"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "ENST00000270139.8",
"protein_id": "ENSP00000270139.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 557,
"cds_start": 17,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000629.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270139.8"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "ENST00000873010.1",
"protein_id": "ENSP00000543069.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 564,
"cds_start": 17,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873010.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "NM_001384498.1",
"protein_id": "NP_001371427.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 558,
"cds_start": 17,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384498.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "NM_001384503.1",
"protein_id": "NP_001371432.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 552,
"cds_start": 17,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384503.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "ENST00000703557.1",
"protein_id": "ENSP00000515373.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 552,
"cds_start": 17,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703557.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "ENST00000873009.1",
"protein_id": "ENSP00000543068.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 552,
"cds_start": 17,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873009.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "ENST00000873011.1",
"protein_id": "ENSP00000543070.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 551,
"cds_start": 17,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873011.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "NM_001384501.1",
"protein_id": "NP_001371430.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 547,
"cds_start": 17,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384501.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "ENST00000970409.1",
"protein_id": "ENSP00000640468.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 530,
"cds_start": 17,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970409.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "ENST00000442071.3",
"protein_id": "ENSP00000400161.3",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 458,
"cds_start": 17,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442071.3"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "ENST00000970411.1",
"protein_id": "ENSP00000640470.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 458,
"cds_start": 17,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970411.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "NM_001384499.1",
"protein_id": "NP_001371428.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 434,
"cds_start": 17,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384499.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "ENST00000703561.1",
"protein_id": "ENSP00000515377.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 395,
"cds_start": 17,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703561.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "ENST00000873012.1",
"protein_id": "ENSP00000543071.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 361,
"cds_start": 17,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873012.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "ENST00000970405.1",
"protein_id": "ENSP00000640465.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 356,
"cds_start": 17,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970405.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "ENST00000652513.2",
"protein_id": "ENSP00000498491.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 270,
"cds_start": 17,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652513.2"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.17T>A",
"hgvs_p": "p.Leu6Gln",
"transcript": "ENST00000652601.1",
"protein_id": "ENSP00000498231.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 236,
"cds_start": 17,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652601.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.-367T>A",
"hgvs_p": null,
"transcript": "NM_001384502.1",
"protein_id": "NP_001371431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384502.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.-770T>A",
"hgvs_p": null,
"transcript": "NM_001384500.1",
"protein_id": "NP_001371429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384500.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.-132+434T>A",
"hgvs_p": null,
"transcript": "NM_001384504.1",
"protein_id": "NP_001371433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": null,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384504.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.-132+434T>A",
"hgvs_p": null,
"transcript": "ENST00000652450.2",
"protein_id": "ENSP00000498654.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": null,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652450.2"
},
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],
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}