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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: 10-6114122-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=6114122&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 6114122,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032905.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "NM_032905.5",
"protein_id": "NP_116294.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379888.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032905.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000379888.9",
"protein_id": "ENSP00000369218.4",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032905.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379888.9"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000446108.5",
"protein_id": "ENSP00000388638.1",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446108.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1100A>C",
"hgvs_p": "p.Lys367Thr",
"transcript": "ENST00000910323.1",
"protein_id": "ENSP00000580382.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 433,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910323.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1046A>C",
"hgvs_p": "p.Lys349Thr",
"transcript": "ENST00000945635.1",
"protein_id": "ENSP00000615694.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 415,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945635.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "NM_001145547.2",
"protein_id": "NP_001139019.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145547.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000910318.1",
"protein_id": "ENSP00000580377.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910318.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000910319.1",
"protein_id": "ENSP00000580378.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910319.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000910320.1",
"protein_id": "ENSP00000580379.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910320.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000910321.1",
"protein_id": "ENSP00000580380.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910321.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000910322.1",
"protein_id": "ENSP00000580381.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910322.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000910324.1",
"protein_id": "ENSP00000580383.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910324.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000910325.1",
"protein_id": "ENSP00000580384.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910325.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000910326.1",
"protein_id": "ENSP00000580385.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910326.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000910327.1",
"protein_id": "ENSP00000580386.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910327.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000930037.1",
"protein_id": "ENSP00000600096.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930037.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000930038.1",
"protein_id": "ENSP00000600097.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930038.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000945632.1",
"protein_id": "ENSP00000615691.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945632.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000945633.1",
"protein_id": "ENSP00000615692.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945633.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr",
"transcript": "ENST00000945634.1",
"protein_id": "ENSP00000615693.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945634.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.974A>C",
"hgvs_p": "p.Lys325Thr",
"transcript": "ENST00000930036.1",
"protein_id": "ENSP00000600095.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 391,
"cds_start": 974,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930036.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM17",
"gene_hgnc_id": 16944,
"hgvs_c": "c.947A>C",
"hgvs_p": "p.Lys316Thr",
"transcript": "ENST00000930039.1",
"protein_id": "ENSP00000600098.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 382,
"cds_start": 947,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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{
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{
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"biotype": "pseudogene",
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{
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"strand": true,
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],
"gene_symbol": "RBM17",
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"dbsnp": "rs775801085",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85538e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6277372241020203,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.606,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6025,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.025,
"phylop100way_prediction": "Pathogenic",
"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"
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"verdict": "Uncertain_significance",
"transcript": "NM_032905.5",
"gene_symbol": "RBM17",
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"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1004A>C",
"hgvs_p": "p.Lys335Thr"
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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
}