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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: 9-92501011-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92501011&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ECM2",
"hgnc_id": 3154,
"hgvs_c": "c.1647C>T",
"hgvs_p": "p.His549His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001393.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CENPP",
"hgnc_id": 32933,
"hgvs_c": "c.565-110303G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001012267.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_score": -5,
"allele_count_reference_population": 98,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 699,
"aa_ref": "H",
"aa_start": 549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 1732,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1647,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001393.4",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1647C>T",
"hgvs_p": "p.His549His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344604.10",
"protein_coding": true,
"protein_id": "NP_001384.1",
"strand": false,
"transcript": "NM_001393.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 699,
"aa_ref": "H",
"aa_start": 549,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 1732,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1647,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000344604.10",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1647C>T",
"hgvs_p": "p.His549His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001393.4",
"protein_coding": true,
"protein_id": "ENSP00000344758.5",
"strand": false,
"transcript": "ENST00000344604.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 643,
"aa_ref": "H",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 1768,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1581,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000444490.6",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1581C>T",
"hgvs_p": "p.His527His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393971.2",
"strand": false,
"transcript": "ENST00000444490.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 288,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8293,
"cdna_start": null,
"cds_end": null,
"cds_length": 867,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001012267.3",
"gene_hgnc_id": 32933,
"gene_symbol": "CENPP",
"hgvs_c": "c.565-110303G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375587.8",
"protein_coding": true,
"protein_id": "NP_001012267.1",
"strand": true,
"transcript": "NM_001012267.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 288,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8293,
"cdna_start": null,
"cds_end": null,
"cds_length": 867,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375587.8",
"gene_hgnc_id": 32933,
"gene_symbol": "CENPP",
"hgvs_c": "c.565-110303G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001012267.3",
"protein_coding": true,
"protein_id": "ENSP00000364737.3",
"strand": true,
"transcript": "ENST00000375587.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 699,
"aa_ref": "H",
"aa_start": 549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1647,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000864386.1",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1647C>T",
"hgvs_p": "p.His549His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534445.1",
"strand": false,
"transcript": "ENST00000864386.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 699,
"aa_ref": "H",
"aa_start": 549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3448,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1647,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000864390.1",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1647C>T",
"hgvs_p": "p.His549His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534449.1",
"strand": false,
"transcript": "ENST00000864390.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 677,
"aa_ref": "H",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1581,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001197295.2",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1581C>T",
"hgvs_p": "p.His527His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001184224.1",
"strand": false,
"transcript": "NM_001197295.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 677,
"aa_ref": "H",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1581,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000864385.1",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1581C>T",
"hgvs_p": "p.His527His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534444.1",
"strand": false,
"transcript": "ENST00000864385.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 677,
"aa_ref": "H",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3347,
"cdna_start": 1894,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1581,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000864388.1",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1581C>T",
"hgvs_p": "p.His527His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534447.1",
"strand": false,
"transcript": "ENST00000864388.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 677,
"aa_ref": "H",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3374,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1581,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000864389.1",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1581C>T",
"hgvs_p": "p.His527His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534448.1",
"strand": false,
"transcript": "ENST00000864389.1",
"transcript_support_level": null
},
{
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"aa_length": 643,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2553,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1581,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
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"feature": "NM_001197296.2",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1581C>T",
"hgvs_p": "p.His527His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001184225.1",
"strand": false,
"transcript": "NM_001197296.2",
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},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1098,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000864391.1",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1098C>T",
"hgvs_p": "p.His366His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534450.1",
"strand": false,
"transcript": "ENST00000864391.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 508,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2688,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1074,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864387.1",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1074C>T",
"hgvs_p": "p.His358His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534446.1",
"strand": false,
"transcript": "ENST00000864387.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 508,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1074,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000970619.1",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1074C>T",
"hgvs_p": "p.His358His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640678.1",
"strand": false,
"transcript": "ENST00000970619.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 699,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3281,
"cdna_start": 1828,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1647,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_024447435.2",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1647C>T",
"hgvs_p": "p.His549His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303203.1",
"strand": false,
"transcript": "XM_024447435.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1778,
"cds_end": null,
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"cds_start": 1647,
"consequences": [
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],
"exon_count": 10,
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"feature": "XM_024447436.2",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1647C>T",
"hgvs_p": "p.His549His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024303204.1",
"strand": false,
"transcript": "XM_024447436.2",
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},
{
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"cds_end": null,
"cds_length": 2100,
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"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047422899.1",
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"hgvs_c": "c.1647C>T",
"hgvs_p": "p.His549His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278855.1",
"strand": false,
"transcript": "XM_047422899.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 531,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286969.1",
"gene_hgnc_id": 32933,
"gene_symbol": "CENPP",
"hgvs_c": "c.229-110303G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273898.1",
"strand": true,
"transcript": "NM_001286969.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 196,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8268,
"cdna_start": null,
"cds_end": null,
"cds_length": 591,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024447543.2",
"gene_hgnc_id": 32933,
"gene_symbol": "CENPP",
"hgvs_c": "c.289-110303G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303311.1",
"strand": true,
"transcript": "XM_024447543.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs557095017",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000060712617,
"gene_hgnc_id": 3154,
"gene_symbol": "ECM2",
"gnomad_exomes_ac": 93,
"gnomad_exomes_af": 0.0000636165,
"gnomad_exomes_homalt": 0,
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"phylop100way_prediction": "Benign",
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"ref": "G",
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"splice_prediction_selected": "Benign",
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"splice_source_selected": "max_spliceai",
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"transcript": "NM_001393.4"
}
]
}