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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: 1-224305044-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=224305044&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 224305044,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000281701.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Leu246Leu",
"transcript": "NM_002533.4",
"protein_id": "NP_002524.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 856,
"cds_start": 738,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": "ENST00000281701.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Leu246Leu",
"transcript": "ENST00000281701.11",
"protein_id": "ENSP00000281701.6",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 856,
"cds_start": 738,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": "NM_002533.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.420G>A",
"hgvs_p": "p.Leu140Leu",
"transcript": "ENST00000391875.6",
"protein_id": "ENSP00000375747.2",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 750,
"cds_start": 420,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.465G>A",
"hgvs_p": "p.Leu155Leu",
"transcript": "NM_001243147.2",
"protein_id": "NP_001230076.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 765,
"cds_start": 465,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.465G>A",
"hgvs_p": "p.Leu155Leu",
"transcript": "ENST00000469075.5",
"protein_id": "ENSP00000417826.1",
"transcript_support_level": 2,
"aa_start": 155,
"aa_end": null,
"aa_length": 765,
"cds_start": 465,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.420G>A",
"hgvs_p": "p.Leu140Leu",
"transcript": "NM_206840.3",
"protein_id": "NP_996671.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 750,
"cds_start": 420,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.90G>A",
"hgvs_p": "p.Leu30Leu",
"transcript": "NM_001243146.2",
"protein_id": "NP_001230075.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 667,
"cds_start": 90,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.90G>A",
"hgvs_p": "p.Leu30Leu",
"transcript": "ENST00000340871.8",
"protein_id": "ENSP00000341362.4",
"transcript_support_level": 2,
"aa_start": 30,
"aa_end": null,
"aa_length": 667,
"cds_start": 90,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.90G>A",
"hgvs_p": "p.Leu30Leu",
"transcript": "ENST00000482491.5",
"protein_id": "ENSP00000417213.2",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 667,
"cds_start": 90,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Leu49Leu",
"transcript": "ENST00000469968.5",
"protein_id": "ENSP00000419420.2",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 659,
"cds_start": 147,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.465G>A",
"hgvs_p": "p.Leu155Leu",
"transcript": "ENST00000488718.5",
"protein_id": "ENSP00000419828.1",
"transcript_support_level": 4,
"aa_start": 155,
"aa_end": null,
"aa_length": 183,
"cds_start": 465,
"cds_end": null,
"cds_length": 553,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.453G>A",
"hgvs_p": "p.Leu151Leu",
"transcript": "ENST00000492281.5",
"protein_id": "ENSP00000418380.1",
"transcript_support_level": 4,
"aa_start": 151,
"aa_end": null,
"aa_length": 179,
"cds_start": 453,
"cds_end": null,
"cds_length": 541,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Leu142Leu",
"transcript": "ENST00000436927.5",
"protein_id": "ENSP00000394884.1",
"transcript_support_level": 3,
"aa_start": 142,
"aa_end": null,
"aa_length": 170,
"cds_start": 426,
"cds_end": null,
"cds_length": 513,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.840G>A",
"hgvs_p": "p.Leu280Leu",
"transcript": "XM_017001378.2",
"protein_id": "XP_016856867.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 917,
"cds_start": 840,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.840G>A",
"hgvs_p": "p.Leu280Leu",
"transcript": "XM_017001379.2",
"protein_id": "XP_016856868.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 890,
"cds_start": 840,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.840G>A",
"hgvs_p": "p.Leu280Leu",
"transcript": "XM_017001380.3",
"protein_id": "XP_016856869.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 889,
"cds_start": 840,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Leu246Leu",
"transcript": "XM_011544196.1",
"protein_id": "XP_011542498.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 883,
"cds_start": 738,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.606G>A",
"hgvs_p": "p.Leu202Leu",
"transcript": "XM_017001383.2",
"protein_id": "XP_016856872.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 812,
"cds_start": 606,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.840G>A",
"hgvs_p": "p.Leu280Leu",
"transcript": "XM_017001384.2",
"protein_id": "XP_016856873.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 789,
"cds_start": 840,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Leu128Leu",
"transcript": "XM_047421613.1",
"protein_id": "XP_047277569.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 765,
"cds_start": 384,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.840G>A",
"hgvs_p": "p.Leu280Leu",
"transcript": "XM_047421618.1",
"protein_id": "XP_047277574.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 762,
"cds_start": 840,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.840G>A",
"hgvs_p": "p.Leu280Leu",
"transcript": "XM_017001385.3",
"protein_id": "XP_016856874.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 756,
"cds_start": 840,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Leu246Leu",
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}