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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: 7-137015556-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=137015556&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 137015556,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000680005.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "NM_001006630.2",
"protein_id": "NP_001006631.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 466,
"cds_start": 691,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": "ENST00000680005.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "ENST00000680005.1",
"protein_id": "ENSP00000505686.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 466,
"cds_start": 691,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": "NM_001006630.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "ENST00000320658.9",
"protein_id": "ENSP00000319984.5",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 466,
"cds_start": 691,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "ENST00000401861.1",
"protein_id": "ENSP00000384401.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 466,
"cds_start": 691,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "ENST00000445907.6",
"protein_id": "ENSP00000399745.2",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 466,
"cds_start": 691,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 5918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "ENST00000453373.5",
"protein_id": "ENSP00000415386.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 466,
"cds_start": 691,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234352",
"gene_hgnc_id": null,
"hgvs_c": "n.655+16349C>T",
"hgvs_p": null,
"transcript": "ENST00000439694.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "NM_000739.3",
"protein_id": "NP_000730.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 466,
"cds_start": 691,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "NM_001006626.3",
"protein_id": "NP_001006627.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 466,
"cds_start": 691,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 5797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "NM_001006627.3",
"protein_id": "NP_001006628.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 466,
"cds_start": 691,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 5893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "NM_001006628.3",
"protein_id": "NP_001006629.1",
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"aa_start": 231,
"aa_end": null,
"aa_length": 466,
"cds_start": 691,
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"cdna_start": 988,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 2,
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"gene_symbol": "CHRM2",
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"transcript": "NM_001006629.3",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "NM_001006631.3",
"protein_id": "NP_001006632.1",
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},
{
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"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "CHRM2",
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},
{
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"gene_symbol": "CHRM2",
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"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "NM_001378972.1",
"protein_id": "NP_001365901.1",
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"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "NM_001378973.1",
"protein_id": "NP_001365902.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "XM_047419847.1",
"protein_id": "XP_047275803.1",
"transcript_support_level": null,
"aa_start": 231,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234352",
"gene_hgnc_id": null,
"hgvs_c": "n.341+17238C>T",
"hgvs_p": null,
"transcript": "ENST00000425981.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "ENSG00000234352",
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"hgvs_c": "n.273+17238C>T",
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],
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"intron_rank": 3,
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},
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],
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"gene_symbol": "ENSG00000234352",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234352",
"gene_hgnc_id": null,
"hgvs_c": "n.275+17238C>T",
"hgvs_p": null,
"transcript": "ENST00000597642.5",
"protein_id": null,
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"aa_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234352",
"gene_hgnc_id": null,
"hgvs_c": "n.155+148565C>T",
"hgvs_p": null,
"transcript": "ENST00000598184.1",
"protein_id": null,
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"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC349160",
"gene_hgnc_id": null,
"hgvs_c": "n.341+17238C>T",
"hgvs_p": null,
"transcript": "NR_046103.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHRM2",
"gene_hgnc_id": 1951,
"dbsnp": "rs76394680",
"frequency_reference_population": 0.0054680826,
"hom_count_reference_population": 29,
"allele_count_reference_population": 8819,
"gnomad_exomes_af": 0.0056775,
"gnomad_genomes_af": 0.00345486,
"gnomad_exomes_ac": 8294,
"gnomad_genomes_ac": 525,
"gnomad_exomes_homalt": 27,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0066742002964019775,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.0731,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.867,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000680005.1",
"gene_symbol": "CHRM2",
"hgnc_id": 1951,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000439694.6",
"gene_symbol": "ENSG00000234352",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.655+16349C>T",
"hgvs_p": null
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NR_046103.1",
"gene_symbol": "LOC349160",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.341+17238C>T",
"hgvs_p": null
}
],
"clinvar_disease": " Dominant,Dilated Cardiomyopathy,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not specified|Dilated Cardiomyopathy, Dominant|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}