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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: 16-89553920-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89553920&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89553920,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001363850.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2063G>A",
"hgvs_p": "p.Arg688Gln",
"transcript": "NM_003119.4",
"protein_id": "NP_003110.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 795,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645818.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003119.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2063G>A",
"hgvs_p": "p.Arg688Gln",
"transcript": "ENST00000645818.2",
"protein_id": "ENSP00000495795.2",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 795,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003119.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645818.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2042G>A",
"hgvs_p": "p.Arg681Gln",
"transcript": "ENST00000268704.7",
"protein_id": "ENSP00000268704.3",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 788,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268704.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2153G>A",
"hgvs_p": "p.Arg718Gln",
"transcript": "ENST00000918773.1",
"protein_id": "ENSP00000588832.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 825,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918773.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln",
"transcript": "ENST00000892261.1",
"protein_id": "ENSP00000562320.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 820,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892261.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2063G>A",
"hgvs_p": "p.Arg688Gln",
"transcript": "NM_001363850.1",
"protein_id": "NP_001350779.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 809,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363850.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2063G>A",
"hgvs_p": "p.Arg688Gln",
"transcript": "ENST00000645063.1",
"protein_id": "ENSP00000493590.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 809,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645063.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702Gln",
"transcript": "ENST00000965633.1",
"protein_id": "ENSP00000635692.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 809,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965633.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2099G>A",
"hgvs_p": "p.Arg700Gln",
"transcript": "ENST00000965632.1",
"protein_id": "ENSP00000635691.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 807,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965632.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2060G>A",
"hgvs_p": "p.Arg687Gln",
"transcript": "ENST00000918772.1",
"protein_id": "ENSP00000588831.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 794,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918772.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2021G>A",
"hgvs_p": "p.Arg674Gln",
"transcript": "ENST00000918771.1",
"protein_id": "ENSP00000588830.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 781,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918771.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2018G>A",
"hgvs_p": "p.Arg673Gln",
"transcript": "ENST00000644781.1",
"protein_id": "ENSP00000495473.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 780,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644781.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1952G>A",
"hgvs_p": "p.Arg651Gln",
"transcript": "ENST00000643649.1",
"protein_id": "ENSP00000494806.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 758,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643649.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1931G>A",
"hgvs_p": "p.Arg644Gln",
"transcript": "ENST00000646303.1",
"protein_id": "ENSP00000494160.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 751,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646303.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Arg623Gln",
"transcript": "ENST00000892262.1",
"protein_id": "ENSP00000562321.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 730,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892262.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573Gln",
"transcript": "ENST00000644671.1",
"protein_id": "ENSP00000495999.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 680,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644671.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565Gln",
"transcript": "ENST00000965631.1",
"protein_id": "ENSP00000635690.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 672,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965631.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1655G>A",
"hgvs_p": "p.Arg552Gln",
"transcript": "ENST00000647079.1",
"protein_id": "ENSP00000495967.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 659,
"cds_start": 1655,
"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": "ENST00000647079.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1601G>A",
"hgvs_p": "p.Arg534Gln",
"transcript": "ENST00000645897.1",
"protein_id": "ENSP00000495293.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 641,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645897.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Arg559Gln",
"transcript": "ENST00000647032.1",
"protein_id": "ENSP00000496047.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 616,
"cds_start": 1676,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647032.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1115G>A",
"hgvs_p": "p.Arg372Gln",
"transcript": "ENST00000646716.1",
"protein_id": "ENSP00000495593.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 493,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646716.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Arg307Gln",
"transcript": "ENST00000646445.1",
"protein_id": "ENSP00000496434.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 414,
"cds_start": 920,
"cds_end": null,
"cds_length": 1245,
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"gene_hgnc_id": 11237,
"hgvs_c": "n.*1619G>A",
"hgvs_p": null,
"transcript": "ENST00000647227.1",
"protein_id": "ENSP00000495783.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647227.1"
}
],
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"dbsnp": "rs12960",
"frequency_reference_population": 0.17388533,
"hom_count_reference_population": 26151,
"allele_count_reference_population": 280380,
"gnomad_exomes_af": 0.178438,
"gnomad_genomes_af": 0.130232,
"gnomad_exomes_ac": 260547,
"gnomad_genomes_ac": 19833,
"gnomad_exomes_homalt": 24507,
"gnomad_genomes_homalt": 1644,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0019080638885498047,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.386,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1045,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.61,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "PM1,PM5,BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 20,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM5",
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001363850.1",
"gene_symbol": "SPG7",
"hgnc_id": 11237,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2063G>A",
"hgvs_p": "p.Arg688Gln"
}
],
"clinvar_disease": "Hereditary spastic paraplegia,Hereditary spastic paraplegia 7,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not specified|Hereditary spastic paraplegia 7|not provided|Hereditary spastic paraplegia",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}