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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: 12-7070184-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=7070184&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "C1S",
"hgnc_id": 1247,
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Trp",
"inheritance_mode": "AR,AD",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_001734.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS1",
"acmg_score": -3,
"allele_count_reference_population": 190,
"alphamissense_prediction": null,
"alphamissense_score": 0.1937,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " periodontal type 2,Complement component C1s deficiency,Ehlers-Danlos syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7524957656860352,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001734.5",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360817.10",
"protein_coding": true,
"protein_id": "NP_001725.1",
"strand": true,
"transcript": "NM_001734.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000360817.10",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001734.5",
"protein_coding": true,
"protein_id": "ENSP00000354057.5",
"strand": true,
"transcript": "ENST00000360817.10",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2972,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000328916.7",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000328173.3",
"strand": true,
"transcript": "ENST00000328916.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 1746,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1099,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000402681.7",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Arg367Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384171.3",
"strand": true,
"transcript": "ENST00000402681.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_201442.4",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958850.1",
"strand": true,
"transcript": "NM_201442.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 2228,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000406697.5",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385035.1",
"strand": true,
"transcript": "ENST00000406697.5",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": 1869,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000857916.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527975.1",
"strand": true,
"transcript": "ENST00000857916.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 1830,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000857923.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527982.1",
"strand": true,
"transcript": "ENST00000857923.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2691,
"cdna_start": 1847,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000857925.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527984.1",
"strand": true,
"transcript": "ENST00000857925.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000956019.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626078.1",
"strand": true,
"transcript": "ENST00000956019.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 1878,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000956020.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626079.1",
"strand": true,
"transcript": "ENST00000956020.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1815,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000956021.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626080.1",
"strand": true,
"transcript": "ENST00000956021.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 687,
"aa_ref": "R",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": 1850,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1597,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000857911.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1597C>T",
"hgvs_p": "p.Arg533Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527970.1",
"strand": true,
"transcript": "ENST00000857911.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 1935,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1597,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000857912.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1597C>T",
"hgvs_p": "p.Arg533Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527971.1",
"strand": true,
"transcript": "ENST00000857912.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2675,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1597,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000857924.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1597C>T",
"hgvs_p": "p.Arg533Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527983.1",
"strand": true,
"transcript": "ENST00000857924.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 685,
"aa_ref": "R",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2757,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1591,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000956014.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1591C>T",
"hgvs_p": "p.Arg531Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626073.1",
"strand": true,
"transcript": "ENST00000956014.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1891,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000857920.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Arg527Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527979.1",
"strand": true,
"transcript": "ENST00000857920.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2667,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000956013.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Arg527Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626072.1",
"strand": true,
"transcript": "ENST00000956013.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 675,
"aa_ref": "R",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 1897,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1561,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000857914.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Arg521Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527973.1",
"strand": true,
"transcript": "ENST00000857914.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 675,
"aa_ref": "R",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 1788,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1561,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000956017.1",
"gene_hgnc_id": 1247,
"gene_symbol": "C1S",
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Arg521Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626076.1",
"strand": true,
"transcript": "ENST00000956017.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 663,
"aa_ref": "R",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2621,
"cdna_start": 1776,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000857913.1",
"gene_hgnc_id": 1247,
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