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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: 9-124881207-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=124881207&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 124881207,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002077.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Glu729Asp",
"transcript": "NM_002077.4",
"protein_id": "NP_002068.2",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 767,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373555.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002077.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Glu729Asp",
"transcript": "ENST00000373555.9",
"protein_id": "ENSP00000362656.4",
"transcript_support_level": 1,
"aa_start": 729,
"aa_end": null,
"aa_length": 767,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002077.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373555.9"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2220G>C",
"hgvs_p": "p.Glu740Asp",
"transcript": "ENST00000876330.1",
"protein_id": "ENSP00000546389.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 778,
"cds_start": 2220,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876330.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Glu729Asp",
"transcript": "ENST00000876328.1",
"protein_id": "ENSP00000546387.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 767,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876328.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Glu729Asp",
"transcript": "ENST00000876329.1",
"protein_id": "ENSP00000546388.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 767,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876329.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Glu729Asp",
"transcript": "ENST00000876332.1",
"protein_id": "ENSP00000546391.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 767,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876332.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Glu729Asp",
"transcript": "ENST00000876333.1",
"protein_id": "ENSP00000546392.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 767,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876333.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Glu729Asp",
"transcript": "ENST00000928347.1",
"protein_id": "ENSP00000598406.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 767,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928347.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2112G>C",
"hgvs_p": "p.Glu704Asp",
"transcript": "ENST00000959809.1",
"protein_id": "ENSP00000629868.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 742,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959809.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Glu697Asp",
"transcript": "ENST00000876331.1",
"protein_id": "ENSP00000546390.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 735,
"cds_start": 2091,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876331.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2058G>C",
"hgvs_p": "p.Glu686Asp",
"transcript": "ENST00000959807.1",
"protein_id": "ENSP00000629866.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 724,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959807.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.1965G>C",
"hgvs_p": "p.Glu655Asp",
"transcript": "ENST00000959806.1",
"protein_id": "ENSP00000629865.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 693,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959806.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.1905G>C",
"hgvs_p": "p.Glu635Asp",
"transcript": "ENST00000959808.1",
"protein_id": "ENSP00000629867.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 673,
"cds_start": 1905,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959808.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Glu729Asp",
"transcript": "XM_005251929.5",
"protein_id": "XP_005251986.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 767,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251929.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Glu729Asp",
"transcript": "XM_006717062.5",
"protein_id": "XP_006717125.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 767,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717062.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Glu729Asp",
"transcript": "XM_006717063.5",
"protein_id": "XP_006717126.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 767,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717063.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Glu729Asp",
"transcript": "XM_047423241.1",
"protein_id": "XP_047279197.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 767,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423241.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Glu729Asp",
"transcript": "XM_047423242.1",
"protein_id": "XP_047279198.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 767,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423242.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "n.*1333G>C",
"hgvs_p": null,
"transcript": "ENST00000475407.5",
"protein_id": "ENSP00000473648.1",
"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": "ENST00000475407.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "n.2636G>C",
"hgvs_p": null,
"transcript": "XR_007061279.1",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_007061279.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "n.2563G>C",
"hgvs_p": null,
"transcript": "XR_007061280.1",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_007061280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "n.2505G>C",
"hgvs_p": null,
"transcript": "XR_929766.2",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_929766.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"hgvs_c": "n.*1333G>C",
"hgvs_p": null,
"transcript": "ENST00000475407.5",
"protein_id": "ENSP00000473648.1",
"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": "ENST00000475407.5"
}
],
"gene_symbol": "GOLGA1",
"gene_hgnc_id": 4424,
"dbsnp": "rs1277647235",
"frequency_reference_population": 0.0000037477655,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000345118,
"gnomad_genomes_af": 0.00000657134,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3970990478992462,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.224,
"revel_prediction": "Benign",
"alphamissense_score": 0.2479,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.356,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002077.4",
"gene_symbol": "GOLGA1",
"hgnc_id": 4424,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Glu729Asp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}