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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: 10-75030791-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=75030791&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 75030791,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000287239.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5967C>G",
"hgvs_p": "p.Leu1989Leu",
"transcript": "NM_012330.4",
"protein_id": "NP_036462.2",
"transcript_support_level": null,
"aa_start": 1989,
"aa_end": null,
"aa_length": 2073,
"cds_start": 5967,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 6481,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "ENST00000287239.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5967C>G",
"hgvs_p": "p.Leu1989Leu",
"transcript": "ENST00000287239.10",
"protein_id": "ENSP00000287239.4",
"transcript_support_level": 1,
"aa_start": 1989,
"aa_end": null,
"aa_length": 2073,
"cds_start": 5967,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 6481,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "NM_012330.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5418C>G",
"hgvs_p": "p.Leu1806Leu",
"transcript": "ENST00000372711.2",
"protein_id": "ENSP00000361796.1",
"transcript_support_level": 1,
"aa_start": 1806,
"aa_end": null,
"aa_length": 1890,
"cds_start": 5418,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 5803,
"cdna_end": null,
"cdna_length": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5967C>G",
"hgvs_p": "p.Leu1989Leu",
"transcript": "NM_001370136.1",
"protein_id": "NP_001357065.1",
"transcript_support_level": null,
"aa_start": 1989,
"aa_end": null,
"aa_length": 2073,
"cds_start": 5967,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 6491,
"cdna_end": null,
"cdna_length": 8324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5967C>G",
"hgvs_p": "p.Leu1989Leu",
"transcript": "NM_001370137.1",
"protein_id": "NP_001357066.1",
"transcript_support_level": null,
"aa_start": 1989,
"aa_end": null,
"aa_length": 2073,
"cds_start": 5967,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 6512,
"cdna_end": null,
"cdna_length": 8345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5967C>G",
"hgvs_p": "p.Leu1989Leu",
"transcript": "ENST00000648725.1",
"protein_id": "ENSP00000497841.1",
"transcript_support_level": null,
"aa_start": 1989,
"aa_end": null,
"aa_length": 2073,
"cds_start": 5967,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 6716,
"cdna_end": null,
"cdna_length": 8209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5967C>G",
"hgvs_p": "p.Leu1989Leu",
"transcript": "ENST00000649463.1",
"protein_id": "ENSP00000497166.1",
"transcript_support_level": null,
"aa_start": 1989,
"aa_end": null,
"aa_length": 2073,
"cds_start": 5967,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 6478,
"cdna_end": null,
"cdna_length": 7908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5418C>G",
"hgvs_p": "p.Leu1806Leu",
"transcript": "NM_001256468.2",
"protein_id": "NP_001243397.1",
"transcript_support_level": null,
"aa_start": 1806,
"aa_end": null,
"aa_length": 1890,
"cds_start": 5418,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 5932,
"cdna_end": null,
"cdna_length": 7765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5418C>G",
"hgvs_p": "p.Leu1806Leu",
"transcript": "NM_001370138.1",
"protein_id": "NP_001357067.1",
"transcript_support_level": null,
"aa_start": 1806,
"aa_end": null,
"aa_length": 1890,
"cds_start": 5418,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 5942,
"cdna_end": null,
"cdna_length": 7775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5418C>G",
"hgvs_p": "p.Leu1806Leu",
"transcript": "ENST00000372724.6",
"protein_id": "ENSP00000361809.2",
"transcript_support_level": 5,
"aa_start": 1806,
"aa_end": null,
"aa_length": 1890,
"cds_start": 5418,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 6083,
"cdna_end": null,
"cdna_length": 7571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5091C>G",
"hgvs_p": "p.Leu1697Leu",
"transcript": "NM_001256469.2",
"protein_id": "NP_001243398.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1781,
"cds_start": 5091,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 5605,
"cdna_end": null,
"cdna_length": 7438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5091C>G",
"hgvs_p": "p.Leu1697Leu",
"transcript": "NM_001370139.1",
"protein_id": "NP_001357068.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1781,
"cds_start": 5091,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 5552,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5091C>G",
"hgvs_p": "p.Leu1697Leu",
"transcript": "NM_001370140.1",
"protein_id": "NP_001357069.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1781,
"cds_start": 5091,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 5615,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5091C>G",
"hgvs_p": "p.Leu1697Leu",
"transcript": "NM_001370141.1",
"protein_id": "NP_001357070.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1781,
"cds_start": 5091,
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"cdna_start": 5545,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5091C>G",
"hgvs_p": "p.Leu1697Leu",
"transcript": "NM_001370142.1",
"protein_id": "NP_001357071.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1781,
"cds_start": 5091,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 5535,
"cdna_end": null,
"cdna_length": 7368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5091C>G",
"hgvs_p": "p.Leu1697Leu",
"transcript": "ENST00000372714.6",
"protein_id": "ENSP00000361799.1",
"transcript_support_level": 5,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1781,
"cds_start": 5091,
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"cdna_start": 5573,
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"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5091C>G",
"hgvs_p": "p.Leu1697Leu",
"transcript": "ENST00000372725.6",
"protein_id": "ENSP00000361810.1",
"transcript_support_level": 5,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1781,
"cds_start": 5091,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 5525,
"cdna_end": null,
"cdna_length": 7027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5091C>G",
"hgvs_p": "p.Leu1697Leu",
"transcript": "ENST00000648892.1",
"protein_id": "ENSP00000497048.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1781,
"cds_start": 5091,
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"cds_length": 5346,
"cdna_start": 5792,
"cdna_end": null,
"cdna_length": 7625,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.5091C>G",
"hgvs_p": "p.Leu1697Leu",
"transcript": "ENST00000649006.1",
"protein_id": "ENSP00000498139.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4929C>G",
"hgvs_p": "p.Leu1643Leu",
"transcript": "NM_001370132.1",
"protein_id": "NP_001357061.1",
"transcript_support_level": null,
"aa_start": 1643,
"aa_end": null,
"aa_length": 1727,
"cds_start": 4929,
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"cds_length": 5184,
"cdna_start": 5443,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4902C>G",
"hgvs_p": "p.Leu1634Leu",
"transcript": "NM_001370143.1",
"protein_id": "NP_001357072.1",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 1718,
"cds_start": 4902,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 5356,
"cdna_end": null,
"cdna_length": 7189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4902C>G",
"hgvs_p": "p.Leu1634Leu",
"transcript": "NM_001370144.1",
"protein_id": "NP_001357073.1",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 1718,
"cds_start": 4902,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 5416,
"cdna_end": null,
"cdna_length": 7249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000287239.10",
"gene_symbol": "KAT6B",
"hgnc_id": 17582,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5967C>G",
"hgvs_p": "p.Leu1989Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}