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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: 11-46725897-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46725897&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 46725897,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000506.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "NM_000506.5",
"protein_id": "NP_000497.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 622,
"cds_start": 598,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311907.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000506.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000311907.10",
"protein_id": "ENSP00000308541.5",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 622,
"cds_start": 598,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000506.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311907.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Glu232Lys",
"transcript": "ENST00000862106.1",
"protein_id": "ENSP00000532165.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 654,
"cds_start": 694,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862106.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000862118.1",
"protein_id": "ENSP00000532177.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 638,
"cds_start": 598,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862118.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000862102.1",
"protein_id": "ENSP00000532161.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 637,
"cds_start": 598,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862102.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000862104.1",
"protein_id": "ENSP00000532163.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 635,
"cds_start": 598,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862104.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000862111.1",
"protein_id": "ENSP00000532170.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 631,
"cds_start": 598,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862111.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "ENST00000862105.1",
"protein_id": "ENSP00000532164.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 629,
"cds_start": 619,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862105.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Glu199Lys",
"transcript": "ENST00000862096.1",
"protein_id": "ENSP00000532155.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 621,
"cds_start": 595,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862096.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Glu196Lys",
"transcript": "ENST00000862107.1",
"protein_id": "ENSP00000532166.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 618,
"cds_start": 586,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862107.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000862112.1",
"protein_id": "ENSP00000532171.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 616,
"cds_start": 598,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862112.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000862123.1",
"protein_id": "ENSP00000532182.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 615,
"cds_start": 577,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862123.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "ENST00000862109.1",
"protein_id": "ENSP00000532168.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 610,
"cds_start": 619,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862109.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Glu186Lys",
"transcript": "ENST00000862103.1",
"protein_id": "ENSP00000532162.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 608,
"cds_start": 556,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862103.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000862093.1",
"protein_id": "ENSP00000532152.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 605,
"cds_start": 598,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862093.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Glu183Lys",
"transcript": "ENST00000862117.1",
"protein_id": "ENSP00000532176.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 605,
"cds_start": 547,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862117.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000862095.1",
"protein_id": "ENSP00000532154.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 603,
"cds_start": 598,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862095.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000862114.1",
"protein_id": "ENSP00000532173.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 601,
"cds_start": 598,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862114.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "ENST00000862101.1",
"protein_id": "ENSP00000532160.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 596,
"cds_start": 520,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862101.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000862100.1",
"protein_id": "ENSP00000532159.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 594,
"cds_start": 598,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862100.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000862098.1",
"protein_id": "ENSP00000532157.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 592,
"cds_start": 598,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862098.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F2",
"gene_hgnc_id": 3535,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000862099.1",
"protein_id": "ENSP00000532158.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 586,
"cds_start": 598,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862099.1"
},
{
"aa_ref": "E",
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"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -10,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -10,
"benign_score": 11,
"pathogenic_score": 1,
"criteria": [
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"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000506.5",
"gene_symbol": "F2",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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}
],
"clinvar_disease": " 2, recurrent, susceptibility to,Cerebral palsy,Congenital prothrombin deficiency,Ischemic stroke,PROTHROMBIN TYPE 3,Pregnancy loss,Thrombophilia due to thrombin defect,not provided,not specified",
"clinvar_classification": " risk factor,Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:2 B:1 O:1",
"phenotype_combined": "PROTHROMBIN TYPE 3|not provided|Congenital prothrombin deficiency|Cerebral palsy|Congenital prothrombin deficiency;Pregnancy loss, recurrent, susceptibility to, 2;Ischemic stroke;Thrombophilia due to thrombin defect|not specified|Thrombophilia due to thrombin defect",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity; risk factor",
"custom_annotations": null
}
],
"message": null
}