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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: 7-24816653-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=24816653&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 24816653,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015550.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Met662Val",
"transcript": "NM_015550.4",
"protein_id": "NP_056365.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 887,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": "ENST00000313367.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015550.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Met662Val",
"transcript": "ENST00000313367.7",
"protein_id": "ENSP00000315410.2",
"transcript_support_level": 1,
"aa_start": 662,
"aa_end": null,
"aa_length": 887,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": "NM_015550.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313367.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1891A>G",
"hgvs_p": "p.Met631Val",
"transcript": "ENST00000396431.5",
"protein_id": "ENSP00000379708.1",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 856,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396431.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1876A>G",
"hgvs_p": "p.Met626Val",
"transcript": "ENST00000396429.5",
"protein_id": "ENSP00000379706.1",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 851,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396429.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Met595Val",
"transcript": "ENST00000409069.5",
"protein_id": "ENSP00000386953.1",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 820,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 2614,
"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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "n.*454A>G",
"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": 3344,
"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": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "n.*454A>G",
"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": 3490,
"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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "n.*454A>G",
"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": 3344,
"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": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "n.*454A>G",
"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": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000409863.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1954A>G",
"hgvs_p": "p.Met652Val",
"transcript": "ENST00000969022.1",
"protein_id": "ENSP00000639081.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 877,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 6718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969022.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1942A>G",
"hgvs_p": "p.Met648Val",
"transcript": "ENST00000940424.1",
"protein_id": "ENSP00000610483.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 873,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 6116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940424.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1930A>G",
"hgvs_p": "p.Met644Val",
"transcript": "ENST00000898370.1",
"protein_id": "ENSP00000568429.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 869,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898370.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1891A>G",
"hgvs_p": "p.Met631Val",
"transcript": "NM_145320.2",
"protein_id": "NP_663160.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 856,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 6366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145320.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1876A>G",
"hgvs_p": "p.Met626Val",
"transcript": "NM_145321.2",
"protein_id": "NP_663161.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 851,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 6351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145321.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1846A>G",
"hgvs_p": "p.Met616Val",
"transcript": "ENST00000898371.1",
"protein_id": "ENSP00000568430.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 841,
"cds_start": 1846,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898371.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Met595Val",
"transcript": "NM_145322.2",
"protein_id": "NP_663162.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 820,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 6258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145322.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Met595Val",
"transcript": "ENST00000940423.1",
"protein_id": "ENSP00000610482.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 820,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 6529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940423.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.1741A>G",
"hgvs_p": "p.Met581Val",
"transcript": "ENST00000940425.1",
"protein_id": "ENSP00000610484.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 806,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 3102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940425.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.2050A>G",
"hgvs_p": "p.Met684Val",
"transcript": "XM_047420129.1",
"protein_id": "XP_047276085.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 909,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 6818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420129.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.2050A>G",
"hgvs_p": "p.Met684Val",
"transcript": "XM_047420130.1",
"protein_id": "XP_047276086.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 909,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 6706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420130.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.2050A>G",
"hgvs_p": "p.Met684Val",
"transcript": "XM_047420131.1",
"protein_id": "XP_047276087.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 909,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2515,
"cdna_end": null,
"cdna_length": 6841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420131.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL3",
"gene_hgnc_id": 16370,
"hgvs_c": "c.2050A>G",
"hgvs_p": "p.Met684Val",
"transcript": "XM_047420132.1",
"protein_id": "XP_047276088.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 909,
"cds_start": 2050,
"cds_end": null,
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{
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{
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{
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],
"gene_symbol": "OSBPL3",
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"dbsnp": "rs755906385",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
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"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6915969848632812,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.272,
"revel_prediction": "Benign",
"alphamissense_score": 0.2198,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.219,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015550.4",
"gene_symbol": "OSBPL3",
"hgnc_id": 16370,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1984A>G",
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],
"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
}