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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: 6-4124615-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=4124615&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 4124615,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000380118.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.795+635C>T",
"hgvs_p": null,
"transcript": "NM_206836.3",
"protein_id": "NP_996667.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": "ENST00000380118.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.795+635C>T",
"hgvs_p": null,
"transcript": "ENST00000380118.8",
"protein_id": "ENSP00000369461.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": "NM_206836.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.705+635C>T",
"hgvs_p": null,
"transcript": "ENST00000361538.6",
"protein_id": "ENSP00000354737.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": -4,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.705+635C>T",
"hgvs_p": null,
"transcript": "ENST00000380125.6",
"protein_id": "ENSP00000369468.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": -4,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1405,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.*353+635C>T",
"hgvs_p": null,
"transcript": "ENST00000496241.6",
"protein_id": "ENSP00000417170.2",
"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": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.705+635C>T",
"hgvs_p": null,
"transcript": "NM_001166010.2",
"protein_id": "NP_001159482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": -4,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.705+635C>T",
"hgvs_p": null,
"transcript": "NM_006117.3",
"protein_id": "NP_006108.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": -4,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "c.705+635C>T",
"hgvs_p": null,
"transcript": "ENST00000465828.5",
"protein_id": "ENSP00000420309.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": -4,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1548,
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.*418+635C>T",
"hgvs_p": null,
"transcript": "ENST00000380120.6",
"protein_id": "ENSP00000369463.2",
"transcript_support_level": 2,
"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": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": null,
"hgvs_c": "n.762-364G>A",
"hgvs_p": null,
"transcript": "ENST00000427996.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": null,
"hgvs_c": "n.843-345G>A",
"hgvs_p": null,
"transcript": "ENST00000436110.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": null,
"hgvs_c": "n.601-1297G>A",
"hgvs_p": null,
"transcript": "ENST00000451679.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.1564+635C>T",
"hgvs_p": null,
"transcript": "ENST00000464057.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
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"cdna_length": 2122,
"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.1580+635C>T",
"hgvs_p": null,
"transcript": "ENST00000464583.5",
"protein_id": null,
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"biotype": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.571+3147C>T",
"hgvs_p": null,
"transcript": "ENST00000478266.6",
"protein_id": "ENSP00000417803.2",
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": null,
"hgvs_c": "n.115+2569G>A",
"hgvs_p": null,
"transcript": "ENST00000496987.1",
"protein_id": null,
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"aa_start": null,
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},
{
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],
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"intron_rank": 4,
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"gene_symbol": "TEX56P",
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"hgvs_c": "n.1147+2569G>A",
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"transcript": "ENST00000643110.1",
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"mane_select": null,
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"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"hgvs_c": "n.871+635C>T",
"hgvs_p": null,
"transcript": "NR_028588.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": 21620,
"hgvs_c": "n.1405-345G>A",
"hgvs_p": null,
"transcript": "NR_104463.3",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "TEX56P",
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"hgvs_c": "n.770-364G>A",
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"transcript": "NR_104464.3",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": 21620,
"hgvs_c": "n.1147+2569G>A",
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"transcript": "NR_172627.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TEX56P",
"gene_hgnc_id": 21620,
"hgvs_c": "n.769+2569G>A",
"hgvs_p": null,
"transcript": "NR_172628.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ECI2",
"gene_hgnc_id": 14601,
"dbsnp": "rs582301",
"frequency_reference_population": 0.014868521,
"hom_count_reference_population": 140,
"allele_count_reference_population": 2264,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0148685,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2264,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 140,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.166,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000380118.8",
"gene_symbol": "ECI2",
"hgnc_id": 14601,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.795+635C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000427996.5",
"gene_symbol": "TEX56P",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.762-364G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}