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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: 7-24830802-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=24830802&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 24830802,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015550.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1850G>A",
"hgvs_p": "p.Arg617Gln",
"transcript": "NM_015550.4",
"protein_id": "NP_056365.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 887,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313367.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015550.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1850G>A",
"hgvs_p": "p.Arg617Gln",
"transcript": "ENST00000313367.7",
"protein_id": "ENSP00000315410.2",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 887,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015550.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313367.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1757G>A",
"hgvs_p": "p.Arg586Gln",
"transcript": "ENST00000396431.5",
"protein_id": "ENSP00000379708.1",
"transcript_support_level": 1,
"aa_start": 586,
"aa_end": null,
"aa_length": 856,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396431.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1742G>A",
"hgvs_p": "p.Arg581Gln",
"transcript": "ENST00000396429.5",
"protein_id": "ENSP00000379706.1",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 851,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396429.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1649G>A",
"hgvs_p": "p.Arg550Gln",
"transcript": "ENST00000409069.5",
"protein_id": "ENSP00000386953.1",
"transcript_support_level": 1,
"aa_start": 550,
"aa_end": null,
"aa_length": 820,
"cds_start": 1649,
"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": "ENST00000409069.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "n.*320G>A",
"hgvs_p": null,
"transcript": "ENST00000409452.5",
"protein_id": "ENSP00000386801.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000409452.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "n.*320G>A",
"hgvs_p": null,
"transcript": "ENST00000409863.5",
"protein_id": "ENSP00000386429.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000409863.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "n.*320G>A",
"hgvs_p": null,
"transcript": "ENST00000409452.5",
"protein_id": "ENSP00000386801.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000409452.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "n.*320G>A",
"hgvs_p": null,
"transcript": "ENST00000409863.5",
"protein_id": "ENSP00000386429.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000409863.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1820G>A",
"hgvs_p": "p.Arg607Gln",
"transcript": "ENST00000969022.1",
"protein_id": "ENSP00000639081.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 877,
"cds_start": 1820,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969022.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1808G>A",
"hgvs_p": "p.Arg603Gln",
"transcript": "ENST00000940424.1",
"protein_id": "ENSP00000610483.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 873,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940424.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1796G>A",
"hgvs_p": "p.Arg599Gln",
"transcript": "ENST00000898370.1",
"protein_id": "ENSP00000568429.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 869,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898370.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1757G>A",
"hgvs_p": "p.Arg586Gln",
"transcript": "NM_145320.2",
"protein_id": "NP_663160.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 856,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145320.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1742G>A",
"hgvs_p": "p.Arg581Gln",
"transcript": "NM_145321.2",
"protein_id": "NP_663161.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 851,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145321.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1649G>A",
"hgvs_p": "p.Arg550Gln",
"transcript": "NM_145322.2",
"protein_id": "NP_663162.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 820,
"cds_start": 1649,
"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": "NM_145322.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1649G>A",
"hgvs_p": "p.Arg550Gln",
"transcript": "ENST00000940423.1",
"protein_id": "ENSP00000610482.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 820,
"cds_start": 1649,
"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": "ENST00000940423.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Arg536Gln",
"transcript": "ENST00000940425.1",
"protein_id": "ENSP00000610484.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 806,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940425.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1916G>A",
"hgvs_p": "p.Arg639Gln",
"transcript": "XM_047420129.1",
"protein_id": "XP_047276085.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 909,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420129.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1916G>A",
"hgvs_p": "p.Arg639Gln",
"transcript": "XM_047420130.1",
"protein_id": "XP_047276086.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 909,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420130.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1916G>A",
"hgvs_p": "p.Arg639Gln",
"transcript": "XM_047420131.1",
"protein_id": "XP_047276087.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 909,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420131.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1916G>A",
"hgvs_p": "p.Arg639Gln",
"transcript": "XM_047420132.1",
"protein_id": "XP_047276088.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 909,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420132.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1916G>A",
"hgvs_p": "p.Arg639Gln",
"transcript": "XM_047420133.1",
"protein_id": "XP_047276089.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 909,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
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{
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{
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{
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{
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"strand": true,
"consequences": [
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "OSBPL3",
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"dbsnp": "rs942617462",
"frequency_reference_population": 0.000007436557,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752633,
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"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7614398002624512,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.247,
"revel_prediction": "Benign",
"alphamissense_score": 0.2032,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.983,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015550.4",
"gene_symbol": "OSBPL3",
"hgnc_id": 16370,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1850G>A",
"hgvs_p": "p.Arg617Gln"
}
],
"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
}