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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: 8-144083209-GC-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144083209&ref=GC&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144083209,
"ref": "GC",
"alt": "AA",
"effect": "missense_variant",
"transcript": "NM_003801.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "NM_003801.4",
"protein_id": "NP_003792.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 621,
"cds_start": 160,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": "ENST00000355091.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003801.4"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000355091.9",
"protein_id": "ENSP00000347206.4",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 621,
"cds_start": 160,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": "NM_003801.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355091.9"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.75-180_75-179delGCinsAA",
"hgvs_p": null,
"transcript": "ENST00000361036.11",
"protein_id": "ENSP00000354316.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361036.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290230",
"gene_hgnc_id": null,
"hgvs_c": "n.791_792delGCinsAA",
"hgvs_p": null,
"transcript": "ENST00000703646.1",
"protein_id": "ENSP00000515414.1",
"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": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703646.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000703648.1",
"protein_id": "ENSP00000515415.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 626,
"cds_start": 160,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703648.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000703649.1",
"protein_id": "ENSP00000515416.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 624,
"cds_start": 160,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703649.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000967426.1",
"protein_id": "ENSP00000637485.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 624,
"cds_start": 160,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967426.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000703620.1",
"protein_id": "ENSP00000515404.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 619,
"cds_start": 160,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703620.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000934431.1",
"protein_id": "ENSP00000604490.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 618,
"cds_start": 160,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934431.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000877764.1",
"protein_id": "ENSP00000547823.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 613,
"cds_start": 160,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877764.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000877765.1",
"protein_id": "ENSP00000547824.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 612,
"cds_start": 160,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877765.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000967425.1",
"protein_id": "ENSP00000637484.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 612,
"cds_start": 160,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967425.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000877766.1",
"protein_id": "ENSP00000547825.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 611,
"cds_start": 160,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877766.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000524418.6",
"protein_id": "ENSP00000434544.2",
"transcript_support_level": 3,
"aa_start": 54,
"aa_end": null,
"aa_length": 607,
"cds_start": 160,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524418.6"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000703633.1",
"protein_id": "ENSP00000515410.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 607,
"cds_start": 160,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703633.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000703621.1",
"protein_id": "ENSP00000515405.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 606,
"cds_start": 160,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703621.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000704807.1",
"protein_id": "ENSP00000516044.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 604,
"cds_start": 160,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704807.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000967424.1",
"protein_id": "ENSP00000637483.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 596,
"cds_start": 160,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967424.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000967422.1",
"protein_id": "ENSP00000637481.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 595,
"cds_start": 160,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967422.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000877763.1",
"protein_id": "ENSP00000547822.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 594,
"cds_start": 160,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877763.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000967427.1",
"protein_id": "ENSP00000637486.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 593,
"cds_start": 160,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967427.1"
},
{
"aa_ref": "A",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.160_161delGCinsAA",
"hgvs_p": "p.Ala54Asn",
"transcript": "ENST00000704809.1",
"protein_id": "ENSP00000516046.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 592,
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],
"gene_symbol": "GPAA1",
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"dbsnp": "rs1554763777",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.774,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM1"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003801.4",
"gene_symbol": "GPAA1",
"hgnc_id": 4446,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ala54Asn"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000703646.1",
"gene_symbol": "ENSG00000290230",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.791_792delGCinsAA",
"hgvs_p": null
}
],
"clinvar_disease": "Glycosylphosphatidylinositol biosynthesis defect 15",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Glycosylphosphatidylinositol biosynthesis defect 15",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}