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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: 6-125889559-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=125889559&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 125889559,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000392477.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ser502Leu",
"transcript": "NM_181782.5",
"protein_id": "NP_861447.3",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 942,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 6264,
"mane_select": "ENST00000392477.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ser502Leu",
"transcript": "ENST00000392477.7",
"protein_id": "ENSP00000376269.2",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 942,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 6264,
"mane_select": "NM_181782.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ser502Leu",
"transcript": "ENST00000368357.7",
"protein_id": "ENSP00000357341.3",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 942,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 5521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ser502Leu",
"transcript": "NM_001199619.2",
"protein_id": "NP_001186548.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 942,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ser502Leu",
"transcript": "NM_001199620.2",
"protein_id": "NP_001186549.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 942,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 6608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Ser491Leu",
"transcript": "NM_001122842.3",
"protein_id": "NP_001116314.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 931,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 6231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1160C>T",
"hgvs_p": "p.Ser387Leu",
"transcript": "NM_001199621.2",
"protein_id": "NP_001186550.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 827,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1160C>T",
"hgvs_p": "p.Ser387Leu",
"transcript": "ENST00000229634.13",
"protein_id": "ENSP00000229634.9",
"transcript_support_level": 2,
"aa_start": 387,
"aa_end": null,
"aa_length": 827,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ser502Leu",
"transcript": "XM_005266822.5",
"protein_id": "XP_005266879.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 942,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 6391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ser502Leu",
"transcript": "XM_006715340.5",
"protein_id": "XP_006715403.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 942,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 6413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ser502Leu",
"transcript": "XM_017010269.2",
"protein_id": "XP_016865758.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 942,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 6276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ser502Leu",
"transcript": "XM_024446331.2",
"protein_id": "XP_024302099.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 942,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 6382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ser502Leu",
"transcript": "XM_047418206.1",
"protein_id": "XP_047274162.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 942,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 3547,
"cdna_end": null,
"cdna_length": 8134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Ser491Leu",
"transcript": "XM_017010270.2",
"protein_id": "XP_016865759.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 931,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 6457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Ser491Leu",
"transcript": "XM_017010272.3",
"protein_id": "XP_016865761.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 931,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 6349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Ser491Leu",
"transcript": "XM_017010273.3",
"protein_id": "XP_016865762.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 931,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 6358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Ser491Leu",
"transcript": "XM_017010274.3",
"protein_id": "XP_016865763.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 931,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 6380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Ser491Leu",
"transcript": "XM_024446332.2",
"protein_id": "XP_024302100.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 931,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1988,
"cdna_end": null,
"cdna_length": 6575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Ser491Leu",
"transcript": "XM_047418207.1",
"protein_id": "XP_047274163.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 931,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3514,
"cdna_end": null,
"cdna_length": 8101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "n.1677C>T",
"hgvs_p": null,
"transcript": "XR_007059204.1",
"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": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"dbsnp": "rs745673617",
"frequency_reference_population": 0.000021688398,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000225766,
"gnomad_genomes_af": 0.0000131515,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06051671504974365,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.0768,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.675,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000392477.7",
"gene_symbol": "NCOA7",
"hgnc_id": 21081,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ser502Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}