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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: 1-64834599-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=64834599&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 64834599,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002227.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "NM_002227.4",
"protein_id": "NP_002218.2",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3722,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": "ENST00000342505.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "ENST00000342505.5",
"protein_id": "ENSP00000343204.4",
"transcript_support_level": 5,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3722,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": "NM_002227.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "NM_001320923.2",
"protein_id": "NP_001307852.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3645,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "NM_001321852.2",
"protein_id": "NP_001308781.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3648,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "NM_001321853.2",
"protein_id": "NP_001308782.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3907,
"cdna_end": null,
"cdna_length": 5277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "NM_001321854.2",
"protein_id": "NP_001308783.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3823,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "NM_001321855.2",
"protein_id": "NP_001308784.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3806,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "NM_001321856.2",
"protein_id": "NP_001308785.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3561,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "ENST00000671929.2",
"protein_id": "ENSP00000500485.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3825,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "ENST00000671954.2",
"protein_id": "ENSP00000500841.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3736,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "ENST00000672179.2",
"protein_id": "ENSP00000500296.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3428,
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"cdna_start": 3544,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "ENST00000672247.2",
"protein_id": "ENSP00000499884.1",
"transcript_support_level": null,
"aa_start": 1143,
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"cds_start": 3428,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "ENST00000672434.2",
"protein_id": "ENSP00000499900.1",
"transcript_support_level": null,
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"cdna_start": 3893,
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "JAK1",
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"hgvs_c": "c.3428A>G",
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"transcript": "ENST00000672751.2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 26,
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"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
"hgvs_p": "p.Gln1143Arg",
"transcript": "ENST00000699262.1",
"protein_id": "ENSP00000514243.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3428A>G",
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"transcript": "ENST00000699312.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3425A>G",
"hgvs_p": "p.Gln1142Arg",
"transcript": "NM_001321857.2",
"protein_id": "NP_001308786.1",
"transcript_support_level": null,
"aa_start": 1142,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3425A>G",
"hgvs_p": "p.Gln1142Arg",
"transcript": "ENST00000699259.1",
"protein_id": "ENSP00000514240.1",
"transcript_support_level": null,
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},
{
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],
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"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3425A>G",
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"transcript": "ENST00000699260.1",
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},
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3422A>G",
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"transcript": "ENST00000673046.1",
"protein_id": "ENSP00000500878.1",
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},
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],
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"gene_symbol": "JAK1",
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"hgvs_c": "c.3422A>G",
"hgvs_p": "p.Gln1141Arg",
"transcript": "ENST00000699310.1",
"protein_id": "ENSP00000514289.1",
"transcript_support_level": null,
"aa_start": 1141,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.3323A>G",
"hgvs_p": "p.Gln1108Arg",
"transcript": "ENST00000672574.2",
"protein_id": "ENSP00000500714.2",
"transcript_support_level": null,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1119,
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"cdna_start": 3637,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
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"exon_count": 25,
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}
],
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}