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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: 1-207091722-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=207091722&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 207091722,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000716.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Lys",
"transcript": "NM_001017365.3",
"protein_id": "NP_001017365.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 252,
"cds_start": 311,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367078.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017365.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Lys",
"transcript": "ENST00000367078.8",
"protein_id": "ENSP00000356045.3",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 252,
"cds_start": 311,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001017365.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367078.8"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Lys",
"transcript": "ENST00000243611.9",
"protein_id": "ENSP00000243611.5",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 252,
"cds_start": 311,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243611.9"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.308C>A",
"hgvs_p": "p.Thr103Lys",
"transcript": "ENST00000367076.7",
"protein_id": "ENSP00000356043.3",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 251,
"cds_start": 308,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367076.7"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Lys",
"transcript": "ENST00000873231.1",
"protein_id": "ENSP00000543290.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 313,
"cds_start": 311,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873231.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Lys",
"transcript": "ENST00000873232.1",
"protein_id": "ENSP00000543291.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 313,
"cds_start": 311,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873232.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Lys",
"transcript": "ENST00000873235.1",
"protein_id": "ENSP00000543294.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 313,
"cds_start": 311,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873235.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Lys",
"transcript": "ENST00000873242.1",
"protein_id": "ENSP00000543301.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 313,
"cds_start": 311,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873242.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.308C>A",
"hgvs_p": "p.Thr103Lys",
"transcript": "ENST00000873233.1",
"protein_id": "ENSP00000543292.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 312,
"cds_start": 308,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873233.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.308C>A",
"hgvs_p": "p.Thr103Lys",
"transcript": "ENST00000873236.1",
"protein_id": "ENSP00000543295.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 312,
"cds_start": 308,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873236.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.308C>A",
"hgvs_p": "p.Thr103Lys",
"transcript": "ENST00000873240.1",
"protein_id": "ENSP00000543299.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 312,
"cds_start": 308,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873240.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.308C>A",
"hgvs_p": "p.Thr103Lys",
"transcript": "ENST00000873243.1",
"protein_id": "ENSP00000543302.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 312,
"cds_start": 308,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873243.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Lys",
"transcript": "NM_000716.3",
"protein_id": "NP_000707.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 252,
"cds_start": 311,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000716.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Lys",
"transcript": "NM_001017367.1",
"protein_id": "NP_001017367.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 252,
"cds_start": 311,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017367.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Lys",
"transcript": "ENST00000391923.1",
"protein_id": "ENSP00000375790.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 252,
"cds_start": 311,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391923.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Lys",
"transcript": "ENST00000873230.1",
"protein_id": "ENSP00000543289.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 252,
"cds_start": 311,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873230.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Lys",
"transcript": "ENST00000873237.1",
"protein_id": "ENSP00000543296.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 252,
"cds_start": 311,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873237.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.311C>A",
"hgvs_p": "p.Thr104Lys",
"transcript": "ENST00000873246.1",
"protein_id": "ENSP00000543305.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 252,
"cds_start": 311,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873246.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.308C>A",
"hgvs_p": "p.Thr103Lys",
"transcript": "NM_001017364.1",
"protein_id": "NP_001017364.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 251,
"cds_start": 308,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017364.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.308C>A",
"hgvs_p": "p.Thr103Lys",
"transcript": "NM_001017366.3",
"protein_id": "NP_001017366.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 251,
"cds_start": 308,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017366.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.308C>A",
"hgvs_p": "p.Thr103Lys",
"transcript": "ENST00000873228.1",
"protein_id": "ENSP00000543287.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 251,
"cds_start": 308,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873228.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4BPB",
"gene_hgnc_id": 1328,
"hgvs_c": "c.308C>A",
"hgvs_p": "p.Thr103Lys",
"transcript": "ENST00000873229.1",
"protein_id": "ENSP00000543288.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 251,
"cds_start": 308,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
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