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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: 10-112409515-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=112409515&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 112409515,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016234.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "NM_203379.2",
"protein_id": "NP_976313.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 683,
"cds_start": 541,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354655.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203379.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000354655.9",
"protein_id": "ENSP00000346680.4",
"transcript_support_level": 2,
"aa_start": 181,
"aa_end": null,
"aa_length": 683,
"cds_start": 541,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_203379.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354655.9"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.709G>T",
"hgvs_p": "p.Ala237Ser",
"transcript": "ENST00000356116.6",
"protein_id": "ENSP00000348429.1",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 739,
"cds_start": 709,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356116.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.709G>T",
"hgvs_p": "p.Ala237Ser",
"transcript": "ENST00000354273.5",
"protein_id": "ENSP00000346223.5",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 697,
"cds_start": 709,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354273.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.709G>T",
"hgvs_p": "p.Ala237Ser",
"transcript": "NM_016234.4",
"protein_id": "NP_057318.2",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 739,
"cds_start": 709,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016234.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.709G>T",
"hgvs_p": "p.Ala237Ser",
"transcript": "NM_001387037.1",
"protein_id": "NP_001373966.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 715,
"cds_start": 709,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387037.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.709G>T",
"hgvs_p": "p.Ala237Ser",
"transcript": "ENST00000433418.6",
"protein_id": "ENSP00000403647.2",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 715,
"cds_start": 709,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433418.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "NM_203380.2",
"protein_id": "NP_976314.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 683,
"cds_start": 541,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203380.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000393081.6",
"protein_id": "ENSP00000376796.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 683,
"cds_start": 541,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393081.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000861349.1",
"protein_id": "ENSP00000531408.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 683,
"cds_start": 541,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861349.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000861353.1",
"protein_id": "ENSP00000531412.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 683,
"cds_start": 541,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861353.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000861356.1",
"protein_id": "ENSP00000531415.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 683,
"cds_start": 541,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861356.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000861357.1",
"protein_id": "ENSP00000531416.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 683,
"cds_start": 541,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861357.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000861365.1",
"protein_id": "ENSP00000531424.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 683,
"cds_start": 541,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861365.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000861366.1",
"protein_id": "ENSP00000531425.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 683,
"cds_start": 541,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861366.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000861368.1",
"protein_id": "ENSP00000531427.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 683,
"cds_start": 541,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861368.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000861369.1",
"protein_id": "ENSP00000531428.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 683,
"cds_start": 541,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861369.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000954837.1",
"protein_id": "ENSP00000624896.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 683,
"cds_start": 541,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954837.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000861351.1",
"protein_id": "ENSP00000531410.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 659,
"cds_start": 541,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861351.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000861359.1",
"protein_id": "ENSP00000531418.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 659,
"cds_start": 541,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861359.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000954832.1",
"protein_id": "ENSP00000624891.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 659,
"cds_start": 541,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954832.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL5",
"gene_hgnc_id": 16526,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000954836.1",
"protein_id": "ENSP00000624895.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 659,
"cds_start": 541,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"frequency_reference_population": 0.0000012398549,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84532e-7,
"gnomad_genomes_af": 0.00000656858,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04803401231765747,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0728,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.373,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_016234.4",
"gene_symbol": "ACSL5",
"hgnc_id": 16526,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.709G>T",
"hgvs_p": "p.Ala237Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000631085.2",
"gene_symbol": "ENSG00000232934",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.464C>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
}