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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: 17-49706221-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=49706221&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC35B1",
"hgnc_id": 20798,
"hgvs_c": "c.322G>A",
"hgvs_p": "p.Val108Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_005827.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1494,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3819599151611328,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 322,
"aa_ref": "V",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 453,
"cds_end": null,
"cds_length": 969,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_005827.4",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.322G>A",
"hgvs_p": "p.Val108Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000240333.12",
"protein_coding": true,
"protein_id": "NP_005818.3",
"strand": false,
"transcript": "NM_005827.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 322,
"aa_ref": "V",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 453,
"cds_end": null,
"cds_length": 969,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000240333.12",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.322G>A",
"hgvs_p": "p.Val108Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005827.4",
"protein_coding": true,
"protein_id": "ENSP00000240333.8",
"strand": false,
"transcript": "ENST00000240333.12",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 359,
"aa_ref": "V",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 440,
"cds_end": null,
"cds_length": 1080,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000649906.1",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Val145Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497423.1",
"strand": false,
"transcript": "ENST00000649906.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 336,
"aa_ref": "V",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1631,
"cdna_start": 442,
"cds_end": null,
"cds_length": 1011,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858530.1",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.322G>A",
"hgvs_p": "p.Val108Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528589.1",
"strand": false,
"transcript": "ENST00000858530.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 320,
"aa_ref": "V",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1162,
"cdna_start": 403,
"cds_end": null,
"cds_length": 963,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858533.1",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.316G>A",
"hgvs_p": "p.Val106Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528592.1",
"strand": false,
"transcript": "ENST00000858533.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 313,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1311,
"cdna_start": 492,
"cds_end": null,
"cds_length": 942,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940145.1",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Val99Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610204.1",
"strand": false,
"transcript": "ENST00000940145.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 308,
"aa_ref": "V",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1192,
"cdna_start": 442,
"cds_end": null,
"cds_length": 927,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858532.1",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.322G>A",
"hgvs_p": "p.Val108Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528591.1",
"strand": false,
"transcript": "ENST00000858532.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 299,
"aa_ref": "V",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 444,
"cds_end": null,
"cds_length": 900,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858531.1",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.322G>A",
"hgvs_p": "p.Val108Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528590.1",
"strand": false,
"transcript": "ENST00000858531.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 255,
"aa_ref": "V",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 428,
"cds_end": null,
"cds_length": 768,
"cds_start": 121,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001278784.2",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265713.1",
"strand": false,
"transcript": "NM_001278784.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 253,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 845,
"cdna_start": 414,
"cds_end": null,
"cds_length": 762,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000508520.5",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424367.1",
"strand": false,
"transcript": "ENST00000508520.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 247,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 862,
"cdna_start": 540,
"cds_end": null,
"cds_length": 746,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000515850.6",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427689.3",
"strand": false,
"transcript": "ENST00000515850.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 226,
"aa_ref": "V",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 943,
"cdna_start": 383,
"cds_end": null,
"cds_length": 681,
"cds_start": 121,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000503334.5",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423323.1",
"strand": false,
"transcript": "ENST00000503334.5",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 186,
"aa_ref": "V",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 633,
"cdna_start": 300,
"cds_end": null,
"cds_length": 562,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000514907.5",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Val77Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426961.1",
"strand": false,
"transcript": "ENST00000514907.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 157,
"aa_ref": "V",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 581,
"cdna_start": 300,
"cds_end": null,
"cds_length": 474,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000511763.6",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Val65Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422104.3",
"strand": false,
"transcript": "ENST00000511763.6",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 75,
"aa_ref": "V",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 548,
"cdna_start": 440,
"cds_end": null,
"cds_length": 229,
"cds_start": 121,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000511657.1",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426402.1",
"strand": false,
"transcript": "ENST00000511657.1",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 393,
"aa_ref": "V",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 555,
"cds_end": null,
"cds_length": 1182,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006721632.4",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721695.1",
"strand": false,
"transcript": "XM_006721632.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 316,
"aa_ref": "V",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": 324,
"cds_end": null,
"cds_length": 951,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011524179.3",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Val102Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522481.1",
"strand": false,
"transcript": "XM_011524179.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 255,
"aa_ref": "V",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1477,
"cdna_start": 315,
"cds_end": null,
"cds_length": 768,
"cds_start": 121,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011524180.3",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522482.1",
"strand": false,
"transcript": "XM_011524180.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 268,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 995,
"cdna_start": null,
"cds_end": null,
"cds_length": 807,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953815.1",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.208+744G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623874.1",
"strand": false,
"transcript": "ENST00000953815.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 36,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 408,
"cdna_start": null,
"cds_end": null,
"cds_length": 111,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940146.1",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "c.58+1555G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610205.1",
"strand": false,
"transcript": "ENST00000940146.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 910,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000435059.6",
"gene_hgnc_id": 20798,
"gene_symbol": "SLC35B1",
"hgvs_c": "n.409G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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