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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: 6-31662363-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31662363&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31662363,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033177.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "NM_033177.4",
"protein_id": "NP_149417.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375896.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033177.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000375896.9",
"protein_id": "ENSP00000365060.4",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033177.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375896.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "NM_001199237.1",
"protein_id": "NP_001186166.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "NM_001199237.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "NM_001199238.1",
"protein_id": "NP_001186167.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "NM_001199238.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "NM_001199239.1",
"protein_id": "NP_001186168.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "NM_001199239.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "NM_001199240.1",
"protein_id": "NP_001186169.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "NM_001199240.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000375893.6",
"protein_id": "ENSP00000365057.2",
"transcript_support_level": 5,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000375893.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000375895.6",
"protein_id": "ENSP00000365059.2",
"transcript_support_level": 5,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000375895.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000375900.8",
"protein_id": "ENSP00000365065.4",
"transcript_support_level": 2,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000375900.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000375906.5",
"protein_id": "ENSP00000365071.1",
"transcript_support_level": 2,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000375906.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000908857.1",
"protein_id": "ENSP00000578916.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000908857.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000908858.1",
"protein_id": "ENSP00000578917.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000908858.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000908859.1",
"protein_id": "ENSP00000578918.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000908859.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000908860.1",
"protein_id": "ENSP00000578919.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000908860.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000908861.1",
"protein_id": "ENSP00000578920.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000908861.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000921266.1",
"protein_id": "ENSP00000591325.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000921266.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000921267.1",
"protein_id": "ENSP00000591326.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000921267.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000921268.1",
"protein_id": "ENSP00000591327.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000921268.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000921269.1",
"protein_id": "ENSP00000591328.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000921269.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000921270.1",
"protein_id": "ENSP00000591329.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000921270.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000921271.1",
"protein_id": "ENSP00000591330.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"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": "ENST00000921271.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.974G>C",
"hgvs_p": "p.Arg325Pro",
"transcript": "ENST00000921272.1",
"protein_id": "ENSP00000591331.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 356,
"cds_start": 974,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}