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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: 9-101427498-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=101427498&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 101427498,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000035.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "NM_000035.4",
"protein_id": "NP_000026.2",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647789.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000035.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000647789.2",
"protein_id": "ENSP00000497767.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000035.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647789.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000648064.1",
"protein_id": "ENSP00000497990.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648064.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000648758.1",
"protein_id": "ENSP00000497731.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648758.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903775.1",
"protein_id": "ENSP00000573834.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903775.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903776.1",
"protein_id": "ENSP00000573835.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903776.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903777.1",
"protein_id": "ENSP00000573836.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903777.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903778.1",
"protein_id": "ENSP00000573837.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903778.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903779.1",
"protein_id": "ENSP00000573838.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903779.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903780.1",
"protein_id": "ENSP00000573839.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903780.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903782.1",
"protein_id": "ENSP00000573841.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903782.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903785.1",
"protein_id": "ENSP00000573844.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903785.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903787.1",
"protein_id": "ENSP00000573846.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903787.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903788.1",
"protein_id": "ENSP00000573847.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903788.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903789.1",
"protein_id": "ENSP00000573848.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903789.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903790.1",
"protein_id": "ENSP00000573849.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903790.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903791.1",
"protein_id": "ENSP00000573850.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 364,
"cds_start": 524,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903791.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.512C>A",
"hgvs_p": "p.Ala171Asp",
"transcript": "ENST00000903783.1",
"protein_id": "ENSP00000573842.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 360,
"cds_start": 512,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903783.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.509C>A",
"hgvs_p": "p.Ala170Asp",
"transcript": "ENST00000903786.1",
"protein_id": "ENSP00000573845.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 359,
"cds_start": 509,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903786.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.506C>A",
"hgvs_p": "p.Ala169Asp",
"transcript": "ENST00000903784.1",
"protein_id": "ENSP00000573843.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 358,
"cds_start": 506,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903784.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000649902.1",
"protein_id": "ENSP00000497216.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 342,
"cds_start": 524,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649902.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp",
"transcript": "ENST00000903781.1",
"protein_id": "ENSP00000573840.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 336,
"cds_start": 524,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"hgvs_c": "n.68-860C>A",
"hgvs_p": null,
"transcript": "ENST00000468981.3",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000468981.3"
}
],
"gene_symbol": "ALDOB",
"gene_hgnc_id": 417,
"dbsnp": "rs76917243",
"frequency_reference_population": 0.0003240031,
"hom_count_reference_population": 0,
"allele_count_reference_population": 523,
"gnomad_exomes_af": 0.000323558,
"gnomad_genomes_af": 0.000328278,
"gnomad_exomes_ac": 473,
"gnomad_genomes_ac": 50,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3474036455154419,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.896,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9914,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PP3,PP5_Very_Strong,BP4",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 1,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PP3",
"PP5_Very_Strong",
"BP4"
],
"verdict": "Pathogenic",
"transcript": "NM_000035.4",
"gene_symbol": "ALDOB",
"hgnc_id": 417,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ala175Asp"
}
],
"clinvar_disease": "ALDOB-related disorder,Hereditary fructosuria,Inborn genetic diseases,See cases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:18 LP:1 O:1",
"phenotype_combined": "Hereditary fructosuria|not provided|See cases|ALDOB-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}