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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: 20-63413535-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63413535&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "KCNQ2",
"hgnc_id": 6296,
"hgvs_c": "c.1624C>A",
"hgvs_p": "p.Arg542Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -9,
"transcript": "NM_001382235.1",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "LOC105372724",
"hgnc_id": null,
"hgvs_c": "n.*185G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -8,
"transcript": "XR_937002.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_score": -9,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "20",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4099999964237213,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 872,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9247,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1678,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_172107.4",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1678C>A",
"hgvs_p": "p.Arg560Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359125.7",
"protein_coding": true,
"protein_id": "NP_742105.1",
"strand": false,
"transcript": "NM_172107.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 872,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9247,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1678,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000359125.7",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1678C>A",
"hgvs_p": "p.Arg560Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_172107.4",
"protein_coding": true,
"protein_id": "ENSP00000352035.2",
"strand": false,
"transcript": "ENST00000359125.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9213,
"cdna_start": 1838,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1624,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000626839.2",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1624C>A",
"hgvs_p": "p.Arg542Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486706.1",
"strand": false,
"transcript": "ENST00000626839.2",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 841,
"aa_ref": "R",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 1631,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1585,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000344462.8",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Arg529Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339611.4",
"strand": false,
"transcript": "ENST00000344462.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 890,
"aa_ref": "R",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9301,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1624,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001382235.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1624C>A",
"hgvs_p": "p.Arg542Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369164.1",
"strand": false,
"transcript": "NM_001382235.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 890,
"aa_ref": "R",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9301,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1624,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000706989.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1624C>A",
"hgvs_p": "p.Arg542Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516702.1",
"strand": false,
"transcript": "ENST00000706989.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": 1779,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1621,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852160.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1621C>A",
"hgvs_p": "p.Arg541Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522219.1",
"strand": false,
"transcript": "ENST00000852160.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9209,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1594,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000921679.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Arg532Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591738.1",
"strand": false,
"transcript": "ENST00000921679.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9193,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1624,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_172106.3",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1624C>A",
"hgvs_p": "p.Arg542Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_742104.1",
"strand": false,
"transcript": "NM_172106.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 853,
"aa_ref": "R",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9190,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 2562,
"cds_start": 1621,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001439003.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1621C>A",
"hgvs_p": "p.Arg541Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425932.1",
"strand": false,
"transcript": "NM_001439003.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 853,
"aa_ref": "R",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3362,
"cdna_start": 1818,
"cds_end": null,
"cds_length": 2562,
"cds_start": 1621,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852159.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1621C>A",
"hgvs_p": "p.Arg541Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522218.1",
"strand": false,
"transcript": "ENST00000852159.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 844,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9163,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 2535,
"cds_start": 1594,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
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"exon_rank_end": null,
"feature": "NM_004518.6",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Arg532Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004509.2",
"strand": false,
"transcript": "NM_004518.6",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 2535,
"cds_start": 1594,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000360480.7",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Arg532Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353668.3",
"strand": false,
"transcript": "ENST00000360480.7",
"transcript_support_level": 5
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9160,
"cdna_start": 1783,
"cds_end": null,
"cds_length": 2532,
"cds_start": 1591,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001439004.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1591C>A",
"hgvs_p": "p.Arg531Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425933.1",
"strand": false,
"transcript": "NM_001439004.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 843,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9160,
"cdna_start": 1783,
"cds_end": null,
"cds_length": 2532,
"cds_start": 1591,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000627221.3",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1591C>A",
"hgvs_p": "p.Arg531Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487469.2",
"strand": false,
"transcript": "ENST00000627221.3",
"transcript_support_level": 5
},
{
"aa_alt": "R",
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"aa_length": 841,
"aa_ref": "R",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9154,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1585,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_172108.5",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Arg529Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_742106.1",
"strand": false,
"transcript": "NM_172108.5",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3296,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1558,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000713605.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Arg",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000518901.1",
"strand": false,
"transcript": "ENST00000713605.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 802,
"aa_ref": "R",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1468,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000921680.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1468C>A",
"hgvs_p": "p.Arg490Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591739.1",
"strand": false,
"transcript": "ENST00000921680.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 1729,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1594,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000370224.5",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Arg532Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359244.2",
"strand": false,
"transcript": "ENST00000370224.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 1650,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1558,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000625514.2",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486040.1",
"strand": false,
"transcript": "ENST00000625514.2",
"transcript_support_level": 5
},
{
"aa_alt": "R",
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"aa_length": 730,
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