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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: 17-48937065-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=48937065&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 48937065,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007241.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Val102Ile",
"transcript": "NM_007241.4",
"protein_id": "NP_009172.2",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 258,
"cds_start": 304,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000502492.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007241.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Val102Ile",
"transcript": "ENST00000502492.6",
"protein_id": "ENSP00000421380.1",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 258,
"cds_start": 304,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007241.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502492.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Val102Ile",
"transcript": "ENST00000290330.7",
"protein_id": "ENSP00000290330.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 257,
"cds_start": 304,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290330.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000956813.1",
"protein_id": "ENSP00000626872.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 287,
"cds_start": 391,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956813.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Val119Ile",
"transcript": "ENST00000930406.1",
"protein_id": "ENSP00000600465.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 275,
"cds_start": 355,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930406.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Ile",
"transcript": "ENST00000930405.1",
"protein_id": "ENSP00000600464.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 273,
"cds_start": 349,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930405.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Val102Ile",
"transcript": "NM_001317192.2",
"protein_id": "NP_001304121.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 257,
"cds_start": 304,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317192.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Val85Ile",
"transcript": "NM_001317193.2",
"protein_id": "NP_001304122.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 241,
"cds_start": 253,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317193.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Val85Ile",
"transcript": "ENST00000856245.1",
"protein_id": "ENSP00000526304.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 241,
"cds_start": 253,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856245.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Val102Ile",
"transcript": "ENST00000930403.1",
"protein_id": "ENSP00000600462.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 233,
"cds_start": 304,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930403.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Val102Ile",
"transcript": "ENST00000930404.1",
"protein_id": "ENSP00000600463.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 197,
"cds_start": 304,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930404.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "c.-88G>A",
"hgvs_p": null,
"transcript": "NM_001317194.2",
"protein_id": "NP_001304123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": null,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317194.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "c.245-823G>A",
"hgvs_p": null,
"transcript": "ENST00000856246.1",
"protein_id": "ENSP00000526305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000230532",
"gene_hgnc_id": null,
"hgvs_c": "n.448C>T",
"hgvs_p": null,
"transcript": "ENST00000435491.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000435491.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "n.43G>A",
"hgvs_p": null,
"transcript": "ENST00000506104.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000506104.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "n.*3G>A",
"hgvs_p": null,
"transcript": "ENST00000507302.6",
"protein_id": "ENSP00000422701.1",
"transcript_support_level": 3,
"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": "ENST00000507302.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "n.376G>A",
"hgvs_p": null,
"transcript": "ENST00000510195.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000510195.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "n.304G>A",
"hgvs_p": null,
"transcript": "ENST00000510558.6",
"protein_id": "ENSP00000421390.2",
"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": "ENST00000510558.6"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "n.175G>A",
"hgvs_p": null,
"transcript": "ENST00000511214.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000511214.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "n.278G>A",
"hgvs_p": null,
"transcript": "ENST00000512243.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000512243.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "n.304G>A",
"hgvs_p": null,
"transcript": "ENST00000514929.1",
"protein_id": "ENSP00000427328.1",
"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": "ENST00000514929.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNF8",
"gene_hgnc_id": 17028,
"hgvs_c": "n.414G>A",
"hgvs_p": null,
"transcript": "ENST00000515174.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000515174.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
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{
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"hom_count_reference_population": 1,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4647716283798218,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.18000000715255737,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.338,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2125,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.646,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.18,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,PP5",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PP2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007241.4",
"gene_symbol": "SNF8",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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"hgvs_p": "p.Val102Ile"
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{
"score": 1,
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"verdict": "Uncertain_significance",
"transcript": "ENST00000435491.1",
"gene_symbol": "ENSG00000230532",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.448C>T",
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}
],
"clinvar_disease": "Neurodevelopmental disorder plus optic atrophy,SNF8-associated disease,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "SNF8-associated disease|Neurodevelopmental disorder plus optic atrophy|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}