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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: 9-2622260-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2622260&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 2622260,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003383.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "NM_003383.5",
"protein_id": "NP_003374.3",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 873,
"cds_start": 71,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382100.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003383.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "ENST00000382100.8",
"protein_id": "ENSP00000371532.2",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 873,
"cds_start": 71,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003383.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382100.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR-AS1",
"gene_hgnc_id": 49621,
"hgvs_c": "n.114G>C",
"hgvs_p": null,
"transcript": "ENST00000453601.5",
"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": "ENST00000453601.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "ENST00000947327.1",
"protein_id": "ENSP00000617386.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 872,
"cds_start": 71,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947327.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "ENST00000916502.1",
"protein_id": "ENSP00000586561.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 861,
"cds_start": 71,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916502.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "ENST00000947328.1",
"protein_id": "ENSP00000617387.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 847,
"cds_start": 71,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947328.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "NM_001018056.3",
"protein_id": "NP_001018066.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 845,
"cds_start": 71,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018056.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "ENST00000681306.1",
"protein_id": "ENSP00000506072.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 845,
"cds_start": 71,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681306.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "ENST00000947330.1",
"protein_id": "ENSP00000617389.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 833,
"cds_start": 71,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947330.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "NM_001322225.2",
"protein_id": "NP_001309154.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 832,
"cds_start": 71,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322225.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "ENST00000680746.1",
"protein_id": "ENSP00000505030.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 832,
"cds_start": 71,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680746.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "ENST00000947329.1",
"protein_id": "ENSP00000617388.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 820,
"cds_start": 71,
"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": "ENST00000947329.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "NM_001322226.2",
"protein_id": "NP_001309155.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 804,
"cds_start": 71,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322226.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "ENST00000681618.1",
"protein_id": "ENSP00000505773.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 804,
"cds_start": 71,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681618.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "ENST00000916501.1",
"protein_id": "ENSP00000586560.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 772,
"cds_start": 71,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916501.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "ENST00000382096.6",
"protein_id": "ENSP00000371528.2",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 107,
"cds_start": 71,
"cds_end": null,
"cds_length": 325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382096.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.71C>G",
"hgvs_p": "p.Ala24Gly",
"transcript": "XM_047423848.1",
"protein_id": "XP_047279804.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 498,
"cds_start": 71,
"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_047423848.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR-AS1",
"gene_hgnc_id": 49621,
"hgvs_c": "n.114G>C",
"hgvs_p": null,
"transcript": "ENST00000657742.1",
"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": "ENST00000657742.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR-AS1",
"gene_hgnc_id": 49621,
"hgvs_c": "n.198G>C",
"hgvs_p": null,
"transcript": "ENST00000671040.1",
"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": "ENST00000671040.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.56C>G",
"hgvs_p": null,
"transcript": "ENST00000679851.1",
"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": "retained_intron",
"feature": "ENST00000679851.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.71C>G",
"hgvs_p": null,
"transcript": "ENST00000680243.1",
"protein_id": "ENSP00000505911.1",
"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": "ENST00000680243.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.71C>G",
"hgvs_p": null,
"transcript": "ENST00000680891.1",
"protein_id": "ENSP00000505167.1",
"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": "ENST00000680891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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{
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{
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{
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.26829802989959717,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.257,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.352,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003383.5",
"gene_symbol": "VLDLR",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ala24Gly"
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{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000453601.5",
"gene_symbol": "VLDLR-AS1",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.114G>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}