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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: 3-128909019-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128909019&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128909019,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014049.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469Trp",
"transcript": "NM_014049.5",
"protein_id": "NP_054768.2",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 621,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308982.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014049.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469Trp",
"transcript": "ENST00000308982.12",
"protein_id": "ENSP00000312618.7",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 621,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014049.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308982.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.938C>T",
"hgvs_p": null,
"transcript": "ENST00000511526.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000511526.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469Trp",
"transcript": "ENST00000681367.1",
"protein_id": "ENSP00000505309.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 643,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681367.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469Trp",
"transcript": "ENST00000680636.1",
"protein_id": "ENSP00000504886.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 626,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680636.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Arg474Trp",
"transcript": "ENST00000897730.1",
"protein_id": "ENSP00000567789.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 626,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897730.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1402C>T",
"hgvs_p": "p.Arg468Trp",
"transcript": "ENST00000897729.1",
"protein_id": "ENSP00000567788.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 620,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897729.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1399C>T",
"hgvs_p": "p.Arg467Trp",
"transcript": "ENST00000959715.1",
"protein_id": "ENSP00000629774.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 619,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959715.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469Trp",
"transcript": "ENST00000897731.1",
"protein_id": "ENSP00000567790.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 615,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897731.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Trp",
"transcript": "ENST00000897732.1",
"protein_id": "ENSP00000567791.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 615,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897732.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469Trp",
"transcript": "ENST00000897734.1",
"protein_id": "ENSP00000567793.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 595,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897734.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437Trp",
"transcript": "ENST00000926997.1",
"protein_id": "ENSP00000597056.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 589,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926997.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Trp",
"transcript": "ENST00000926996.1",
"protein_id": "ENSP00000597055.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 578,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926996.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469Trp",
"transcript": "ENST00000959716.1",
"protein_id": "ENSP00000629775.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 578,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959716.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Arg409Trp",
"transcript": "ENST00000897733.1",
"protein_id": "ENSP00000567792.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 561,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897733.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Arg346Trp",
"transcript": "NM_001410805.1",
"protein_id": "NP_001397734.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 498,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410805.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Arg346Trp",
"transcript": "ENST00000679715.1",
"protein_id": "ENSP00000506228.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 498,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679715.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Arg346Trp",
"transcript": "XM_024453484.2",
"protein_id": "XP_024309252.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 498,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453484.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1150-3488C>T",
"hgvs_p": null,
"transcript": "ENST00000681552.1",
"protein_id": "ENSP00000505699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681552.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*1205C>T",
"hgvs_p": null,
"transcript": "ENST00000505867.5",
"protein_id": "ENSP00000425346.1",
"transcript_support_level": 2,
"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": "ENST00000505867.5"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.694C>T",
"hgvs_p": null,
"transcript": "ENST00000508971.1",
"protein_id": "ENSP00000422683.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000508971.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*1299C>T",
"hgvs_p": null,
"transcript": "ENST00000511227.5",
"protein_id": "ENSP00000425226.1",
"transcript_support_level": 2,
"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,
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"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*598C>T",
"hgvs_p": null,
"transcript": "ENST00000681886.1",
"protein_id": "ENSP00000506500.1",
"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": "ENST00000681886.1"
}
],
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"dbsnp": "rs139145143",
"frequency_reference_population": 0.00072606705,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1172,
"gnomad_exomes_af": 0.000758643,
"gnomad_genomes_af": 0.000413505,
"gnomad_exomes_ac": 1109,
"gnomad_genomes_ac": 63,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20564797520637512,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.584,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0963,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.933,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP5,BP4,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_014049.5",
"gene_symbol": "ACAD9",
"hgnc_id": 21497,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469Trp"
}
],
"clinvar_disease": "Acyl-CoA dehydrogenase 9 deficiency,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:5",
"phenotype_combined": "not provided|Acyl-CoA dehydrogenase 9 deficiency|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}