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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: 22-45332489-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=45332489&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 45332489,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001349916.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "NM_017911.4",
"protein_id": "NP_060381.2",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000441876.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017911.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "ENST00000441876.7",
"protein_id": "ENSP00000395892.2",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017911.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441876.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253His",
"transcript": "NM_001349916.2",
"protein_id": "NP_001336845.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 371,
"cds_start": 758,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349916.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"transcript": "NM_001349914.2",
"protein_id": "NP_001336843.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 358,
"cds_start": 719,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349914.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"transcript": "ENST00000894424.1",
"protein_id": "ENSP00000564483.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 358,
"cds_start": 719,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894424.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"transcript": "ENST00000894426.1",
"protein_id": "ENSP00000564485.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 358,
"cds_start": 719,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894426.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"transcript": "ENST00000951640.1",
"protein_id": "ENSP00000621699.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 358,
"cds_start": 719,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951640.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"transcript": "ENST00000951649.1",
"protein_id": "ENSP00000621708.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 358,
"cds_start": 719,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951649.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "NM_001104595.2",
"protein_id": "NP_001098065.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001104595.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "NM_001349913.2",
"protein_id": "NP_001336842.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349913.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "ENST00000216214.7",
"protein_id": "ENSP00000216214.3",
"transcript_support_level": 2,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216214.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "ENST00000894427.1",
"protein_id": "ENSP00000564486.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894427.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "ENST00000894428.1",
"protein_id": "ENSP00000564487.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894428.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "ENST00000915811.1",
"protein_id": "ENSP00000585870.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915811.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "ENST00000915815.1",
"protein_id": "ENSP00000585874.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915815.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "ENST00000951641.1",
"protein_id": "ENSP00000621700.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951641.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "ENST00000951648.1",
"protein_id": "ENSP00000621707.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951648.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "ENST00000951650.1",
"protein_id": "ENSP00000621709.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951650.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "ENST00000951651.1",
"protein_id": "ENSP00000621710.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951651.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"transcript": "ENST00000951647.1",
"protein_id": "ENSP00000621706.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 347,
"cds_start": 719,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951647.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "ENST00000915814.1",
"protein_id": "ENSP00000585873.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 346,
"cds_start": 716,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915814.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM118A",
"gene_hgnc_id": 1313,
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228His",
"transcript": "ENST00000915819.1",
"protein_id": "ENSP00000585878.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 346,
"cds_start": 683,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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}
],
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}