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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: 7-5529307-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5529307&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5529307,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000646664.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr",
"transcript": "NM_001101.5",
"protein_id": "NP_001092.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 375,
"cds_start": 217,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": "ENST00000646664.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr",
"transcript": "ENST00000646664.1",
"protein_id": "ENSP00000494750.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 375,
"cds_start": 217,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": "NM_001101.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.217C>T",
"hgvs_p": null,
"transcript": "ENST00000425660.5",
"protein_id": "ENSP00000409264.1",
"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": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.417C>T",
"hgvs_p": null,
"transcript": "ENST00000480301.1",
"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": 657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr",
"transcript": "ENST00000493945.6",
"protein_id": "ENSP00000494269.1",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 375,
"cds_start": 217,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr",
"transcript": "ENST00000642480.2",
"protein_id": "ENSP00000495995.2",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 375,
"cds_start": 217,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr",
"transcript": "ENST00000674681.1",
"protein_id": "ENSP00000502821.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 375,
"cds_start": 217,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr",
"transcript": "ENST00000675515.1",
"protein_id": "ENSP00000501862.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 375,
"cds_start": 217,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr",
"transcript": "ENST00000432588.6",
"protein_id": "ENSP00000407473.2",
"transcript_support_level": 4,
"aa_start": 73,
"aa_end": null,
"aa_length": 334,
"cds_start": 217,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 1300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr",
"transcript": "ENST00000676397.1",
"protein_id": "ENSP00000502286.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 334,
"cds_start": 217,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.His30Tyr",
"transcript": "ENST00000473257.3",
"protein_id": "ENSP00000501773.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 332,
"cds_start": 88,
"cds_end": null,
"cds_length": 999,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr",
"transcript": "ENST00000645576.1",
"protein_id": "ENSP00000496101.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 308,
"cds_start": 217,
"cds_end": null,
"cds_length": 929,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr",
"transcript": "ENST00000443528.5",
"protein_id": "ENSP00000393951.1",
"transcript_support_level": 4,
"aa_start": 73,
"aa_end": null,
"aa_length": 101,
"cds_start": 217,
"cds_end": null,
"cds_length": 308,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr",
"transcript": "ENST00000417101.2",
"protein_id": "ENSP00000399487.2",
"transcript_support_level": 4,
"aa_start": 73,
"aa_end": null,
"aa_length": 95,
"cds_start": 217,
"cds_end": null,
"cds_length": 289,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr",
"transcript": "ENST00000414620.1",
"protein_id": "ENSP00000401032.1",
"transcript_support_level": 4,
"aa_start": 73,
"aa_end": null,
"aa_length": 79,
"cds_start": 217,
"cds_end": null,
"cds_length": 242,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.301C>T",
"hgvs_p": null,
"transcript": "ENST00000462494.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 2245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.424C>T",
"hgvs_p": null,
"transcript": "ENST00000477812.2",
"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": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.371C>T",
"hgvs_p": null,
"transcript": "ENST00000484841.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.300C>T",
"hgvs_p": null,
"transcript": "ENST00000645025.1",
"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": 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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.217C>T",
"hgvs_p": null,
"transcript": "ENST00000676189.1",
"protein_id": "ENSP00000502538.1",
"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": 1815,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.-3-588C>T",
"hgvs_p": null,
"transcript": "ENST00000647275.1",
"protein_id": "ENSP00000494185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": -4,
"cds_end": null,
"cds_length": 472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.87+264C>T",
"hgvs_p": null,
"transcript": "ENST00000676319.1",
"protein_id": "ENSP00000502193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": -4,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"dbsnp": "rs786205585",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9487600326538086,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.94,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9626,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.718,
"phylop100way_prediction": "Pathogenic",
"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": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000646664.1",
"gene_symbol": "ACTB",
"hgnc_id": 132,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr"
}
],
"clinvar_disease": "Baraitser-Winter syndrome 1,Neurodevelopmental delay",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Baraitser-Winter syndrome 1|Neurodevelopmental delay",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}