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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: 1-64844806-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=64844806&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 64844806,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000342505.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "NM_002227.4",
"protein_id": "NP_002218.2",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": "ENST00000342505.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "ENST00000342505.5",
"protein_id": "ENSP00000343204.4",
"transcript_support_level": 5,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": "NM_002227.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "NM_001320923.2",
"protein_id": "NP_001307852.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "NM_001321852.2",
"protein_id": "NP_001308781.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "NM_001321853.2",
"protein_id": "NP_001308782.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2678,
"cdna_end": null,
"cdna_length": 5277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "NM_001321854.2",
"protein_id": "NP_001308783.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2594,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "NM_001321855.2",
"protein_id": "NP_001308784.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2577,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "NM_001321856.2",
"protein_id": "NP_001308785.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "ENST00000671929.2",
"protein_id": "ENSP00000500485.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2596,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "ENST00000671954.2",
"protein_id": "ENSP00000500841.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2507,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "ENST00000672179.2",
"protein_id": "ENSP00000500296.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2315,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "ENST00000672247.2",
"protein_id": "ENSP00000499884.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "ENST00000672434.2",
"protein_id": "ENSP00000499900.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
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"cds_length": 3465,
"cdna_start": 2664,
"cdna_end": null,
"cdna_length": 5258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "ENST00000672751.2",
"protein_id": "ENSP00000500745.2",
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"cdna_start": 2427,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "ENST00000699262.1",
"protein_id": "ENSP00000514243.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2199,
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"cdna_start": 2416,
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"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "ENST00000699312.1",
"protein_id": "ENSP00000514291.1",
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"cdna_start": 2580,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2196A>G",
"hgvs_p": "p.Pro732Pro",
"transcript": "NM_001321857.2",
"protein_id": "NP_001308786.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2196,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2490,
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"cdna_length": 5089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2196A>G",
"hgvs_p": "p.Pro732Pro",
"transcript": "ENST00000699259.1",
"protein_id": "ENSP00000514240.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2196,
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"cdna_start": 2577,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2196A>G",
"hgvs_p": "p.Pro732Pro",
"transcript": "ENST00000699260.1",
"protein_id": "ENSP00000514241.1",
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "ENST00000673046.1",
"protein_id": "ENSP00000500878.1",
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"feature": null
},
{
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"aa_alt": "P",
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2193A>G",
"hgvs_p": "p.Pro731Pro",
"transcript": "ENST00000699310.1",
"protein_id": "ENSP00000514289.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1152,
"cds_start": 2193,
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"cdna_start": 2489,
"cdna_end": null,
"cdna_length": 5083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2199A>G",
"hgvs_p": "p.Pro733Pro",
"transcript": "ENST00000672574.2",
"protein_id": "ENSP00000500714.2",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2513,
"cdna_end": null,
"cdna_length": 5001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
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"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}