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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: X-48976318-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48976318&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48976318,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020137.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2107C>G",
"hgvs_p": "p.Leu703Val",
"transcript": "NM_020137.5",
"protein_id": "NP_064522.4",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 841,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376423.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020137.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2107C>G",
"hgvs_p": "p.Leu703Val",
"transcript": "ENST00000376423.8",
"protein_id": "ENSP00000365606.5",
"transcript_support_level": 1,
"aa_start": 703,
"aa_end": null,
"aa_length": 841,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020137.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376423.8"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2278C>G",
"hgvs_p": "p.Leu760Val",
"transcript": "ENST00000900849.1",
"protein_id": "ENSP00000570908.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 898,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900849.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2275C>G",
"hgvs_p": "p.Leu759Val",
"transcript": "ENST00000946827.1",
"protein_id": "ENSP00000616886.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 897,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946827.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2236C>G",
"hgvs_p": "p.Leu746Val",
"transcript": "ENST00000703962.1",
"protein_id": "ENSP00000515589.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 884,
"cds_start": 2236,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703962.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2212C>G",
"hgvs_p": "p.Leu738Val",
"transcript": "ENST00000704020.1",
"protein_id": "ENSP00000515632.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 876,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704020.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2203C>G",
"hgvs_p": "p.Leu735Val",
"transcript": "ENST00000703932.1",
"protein_id": "ENSP00000515566.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 873,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703932.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Leu734Val",
"transcript": "ENST00000704095.1",
"protein_id": "ENSP00000515690.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 872,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704095.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2203C>G",
"hgvs_p": "p.Leu735Val",
"transcript": "ENST00000900846.1",
"protein_id": "ENSP00000570905.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 867,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900846.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2182C>G",
"hgvs_p": "p.Leu728Val",
"transcript": "ENST00000703876.1",
"protein_id": "ENSP00000515519.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 866,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703876.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Leu724Val",
"transcript": "ENST00000704045.1",
"protein_id": "ENSP00000515648.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 862,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704045.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2182C>G",
"hgvs_p": "p.Leu728Val",
"transcript": "ENST00000900847.1",
"protein_id": "ENSP00000570906.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 860,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900847.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2137C>G",
"hgvs_p": "p.Leu713Val",
"transcript": "ENST00000703927.1",
"protein_id": "ENSP00000515561.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 851,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703927.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2137C>G",
"hgvs_p": "p.Leu713Val",
"transcript": "ENST00000704267.1",
"protein_id": "ENSP00000515807.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 851,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704267.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2107C>G",
"hgvs_p": "p.Leu703Val",
"transcript": "ENST00000900851.1",
"protein_id": "ENSP00000570910.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 848,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900851.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2107C>G",
"hgvs_p": "p.Leu703Val",
"transcript": "ENST00000900845.1",
"protein_id": "ENSP00000570904.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 846,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900845.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2137C>G",
"hgvs_p": "p.Leu713Val",
"transcript": "ENST00000946828.1",
"protein_id": "ENSP00000616887.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 845,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946828.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2113C>G",
"hgvs_p": "p.Leu705Val",
"transcript": "ENST00000937301.1",
"protein_id": "ENSP00000607360.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 843,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937301.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2104C>G",
"hgvs_p": "p.Leu702Val",
"transcript": "ENST00000704106.1",
"protein_id": "ENSP00000515699.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 840,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704106.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2104C>G",
"hgvs_p": "p.Leu702Val",
"transcript": "ENST00000946831.1",
"protein_id": "ENSP00000616890.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 840,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946831.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2101C>G",
"hgvs_p": "p.Leu701Val",
"transcript": "ENST00000704103.1",
"protein_id": "ENSP00000515696.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 839,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704103.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIPAP1",
"gene_hgnc_id": 18706,
"hgvs_c": "c.2095C>G",
"hgvs_p": "p.Leu699Val",
"transcript": "ENST00000704046.1",
"protein_id": "ENSP00000515649.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}