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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: 3-46860703-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=46860703&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYL3",
"hgnc_id": 7584,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"inheritance_mode": "AD,SD",
"pathogenic_score": 7,
"score": 6,
"transcript": "NM_000258.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,BP4",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.7304,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hypertrophic cardiomyopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5707648396492004,
"computational_source_selected": "CardioboostCm",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 195,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 885,
"cdna_start": 334,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000258.3",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000292327.6",
"protein_coding": true,
"protein_id": "NP_000249.1",
"strand": false,
"transcript": "NM_000258.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 195,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 885,
"cdna_start": 334,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000292327.6",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000258.3",
"protein_coding": true,
"protein_id": "ENSP00000292327.4",
"strand": false,
"transcript": "ENST00000292327.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 195,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": 332,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000395869.5",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379210.1",
"strand": false,
"transcript": "ENST00000395869.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 239,
"aa_ref": "R",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1016,
"cdna_start": 466,
"cds_end": null,
"cds_length": 720,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000713934.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.412C>A",
"hgvs_p": "p.Arg138Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519231.1",
"strand": false,
"transcript": "ENST00000713934.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 239,
"aa_ref": "R",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 461,
"cds_end": null,
"cds_length": 720,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000957831.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.412C>A",
"hgvs_p": "p.Arg138Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627890.1",
"strand": false,
"transcript": "ENST00000957831.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 239,
"aa_ref": "R",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1140,
"cdna_start": 465,
"cds_end": null,
"cds_length": 720,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000957844.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.412C>A",
"hgvs_p": "p.Arg138Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627903.1",
"strand": false,
"transcript": "ENST00000957844.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 209,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 920,
"cdna_start": 373,
"cds_end": null,
"cds_length": 630,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000957846.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.322C>A",
"hgvs_p": "p.Arg108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627905.1",
"strand": false,
"transcript": "ENST00000957846.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 205,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 910,
"cdna_start": 334,
"cds_end": null,
"cds_length": 618,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000877138.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547197.1",
"strand": false,
"transcript": "ENST00000877138.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 195,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1014,
"cdna_start": 334,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001406937.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393866.1",
"strand": false,
"transcript": "NM_001406937.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 195,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1157,
"cdna_start": 606,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001406938.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393867.1",
"strand": false,
"transcript": "NM_001406938.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 195,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1039,
"cdna_start": 488,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001406939.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393868.1",
"strand": false,
"transcript": "NM_001406939.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 195,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 602,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000431168.2",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393455.2",
"strand": false,
"transcript": "ENST00000431168.2",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_length": 195,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 334,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000653454.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499624.1",
"strand": false,
"transcript": "ENST00000653454.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 195,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 478,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000654597.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499406.1",
"strand": false,
"transcript": "ENST00000654597.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 195,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 914,
"cdna_start": 412,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000662933.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499577.1",
"strand": false,
"transcript": "ENST00000662933.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 195,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 821,
"cdna_start": 334,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000713933.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519230.1",
"strand": false,
"transcript": "ENST00000713933.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 195,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 719,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877119.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000547178.1",
"strand": false,
"transcript": "ENST00000877119.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2022,
"cdna_start": 607,
"cds_end": null,
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"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877120.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547179.1",
"strand": false,
"transcript": "ENST00000877120.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 195,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 829,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000877121.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547180.1",
"strand": false,
"transcript": "ENST00000877121.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 195,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 937,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000877122.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547181.1",
"strand": false,
"transcript": "ENST00000877122.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 195,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": 484,
"cds_end": null,
"cds_length": 588,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877123.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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