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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: 3-46859529-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=46859529&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PS3",
"PM1",
"PP2",
"PP3_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYL3",
"hgnc_id": 7584,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"inheritance_mode": "AD,SD",
"pathogenic_score": 9,
"score": 5,
"transcript": "NM_000258.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS3,PM1,PP2,PP3_Moderate,BS2",
"acmg_score": 5,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.9781,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.38,
"chr": "3",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,Hypertrophic cardiomyopathy 8,MYL3-related disorder,Primary familial hypertrophic cardiomyopathy,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 LP:11 US:2 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9133102893829346,
"computational_source_selected": "CardioboostCm",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 885,
"cdna_start": 481,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000258.3",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 885,
"cdna_start": 481,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000292327.6",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": 479,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000395869.5",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 239,
"aa_ref": "E",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1016,
"cdna_start": 613,
"cds_end": null,
"cds_length": 720,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713934.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Glu187Lys",
"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": "K",
"aa_end": null,
"aa_length": 239,
"aa_ref": "E",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 608,
"cds_end": null,
"cds_length": 720,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957831.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Glu187Lys",
"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": "K",
"aa_end": null,
"aa_length": 239,
"aa_ref": "E",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1140,
"cdna_start": 612,
"cds_end": null,
"cds_length": 720,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957844.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Glu187Lys",
"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": "K",
"aa_end": null,
"aa_length": 209,
"aa_ref": "E",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 920,
"cdna_start": 520,
"cds_end": null,
"cds_length": 630,
"cds_start": 469,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957846.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Glu157Lys",
"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": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "E",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 910,
"cdna_start": 511,
"cds_end": null,
"cds_length": 618,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000877138.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys",
"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": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1014,
"cdna_start": 481,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001406937.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1157,
"cdna_start": 753,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001406938.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1039,
"cdna_start": 635,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001406939.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 749,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000431168.2",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 481,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000653454.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 625,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000654597.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 914,
"cdna_start": 559,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000662933.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 821,
"cdna_start": 481,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713933.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 866,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877119.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547178.1",
"strand": false,
"transcript": "ENST00000877119.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2022,
"cdna_start": 754,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877120.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547179.1",
"strand": false,
"transcript": "ENST00000877120.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 976,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877121.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547180.1",
"strand": false,
"transcript": "ENST00000877121.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877122.1",
"gene_hgnc_id": 7584,
"gene_symbol": "MYL3",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Glu143Lys",
"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": "K",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": 631,
"cds_end": null,
"cds_length": 588,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877123.1",
"gene_hgnc_id": 7584,
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