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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: 7-75983826-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=75983826&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 75983826,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000461988.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "NM_001395413.1",
"protein_id": "NP_001382342.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 677,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "ENST00000461988.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "ENST00000461988.6",
"protein_id": "ENSP00000419970.2",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 677,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "NM_001395413.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Asp396Asn",
"transcript": "ENST00000447222.5",
"protein_id": "ENSP00000393527.1",
"transcript_support_level": 5,
"aa_start": 396,
"aa_end": null,
"aa_length": 724,
"cds_start": 1186,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Asp361Asn",
"transcript": "NM_001382655.3",
"protein_id": "NP_001369584.2",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 695,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Asp346Asn",
"transcript": "ENST00000706545.1",
"protein_id": "ENSP00000516443.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 680,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Asp346Asn",
"transcript": "ENST00000706546.1",
"protein_id": "ENSP00000516444.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 680,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Asp346Asn",
"transcript": "ENST00000706547.1",
"protein_id": "ENSP00000516445.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 680,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "NM_001367562.3",
"protein_id": "NP_001354491.2",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 677,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "NM_001382657.2",
"protein_id": "NP_001369586.2",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 677,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "NM_001382658.3",
"protein_id": "NP_001369587.2",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 677,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "NM_001382659.3",
"protein_id": "NP_001369588.2",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 677,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Asp313Asn",
"transcript": "ENST00000706544.1",
"protein_id": "ENSP00000516442.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 647,
"cds_start": 937,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "ENST00000394893.5",
"protein_id": "ENSP00000378355.2",
"transcript_support_level": 5,
"aa_start": 343,
"aa_end": null,
"aa_length": 630,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn",
"transcript": "NM_001382662.3",
"protein_id": "NP_001369591.2",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 627,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Asp271Asn",
"transcript": "ENST00000475509.2",
"protein_id": "ENSP00000516446.1",
"transcript_support_level": 5,
"aa_start": 271,
"aa_end": null,
"aa_length": 605,
"cds_start": 811,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Asp84Asn",
"transcript": "ENST00000439269.1",
"protein_id": "ENSP00000412490.1",
"transcript_support_level": 2,
"aa_start": 84,
"aa_end": null,
"aa_length": 418,
"cds_start": 250,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 1858,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.*341G>A",
"hgvs_p": null,
"transcript": "ENST00000454934.5",
"protein_id": "ENSP00000414263.2",
"transcript_support_level": 3,
"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": 2295,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.391G>A",
"hgvs_p": null,
"transcript": "ENST00000487247.5",
"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": 853,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.38G>A",
"hgvs_p": null,
"transcript": "ENST00000495770.1",
"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,
"cdna_end": null,
"cdna_length": 559,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.410G>A",
"hgvs_p": null,
"transcript": "ENST00000496888.5",
"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": 939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.*341G>A",
"hgvs_p": null,
"transcript": "ENST00000454934.5",
"protein_id": "ENSP00000414263.2",
"transcript_support_level": 3,
"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": 2295,
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.*108+190G>A",
"hgvs_p": null,
"transcript": "ENST00000412064.6",
"protein_id": "ENSP00000404731.3",
"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": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.*33G>A",
"hgvs_p": null,
"transcript": "ENST00000460892.1",
"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,
"cdna_end": null,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POR",
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"dbsnp": "rs782200489",
"frequency_reference_population": 6.8544887e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85449e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6486379504203796,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.511,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.561,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000461988.6",
"gene_symbol": "POR",
"hgnc_id": 9208,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Asp343Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}