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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: 1-100011430-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=100011430&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC35A3",
"hgnc_id": 11023,
"hgvs_c": "c.657G>T",
"hgvs_p": "p.Met219Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001271685.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000283761",
"hgnc_id": null,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000639037.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000288826",
"hgnc_id": null,
"hgvs_c": "n.278+26300C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000840838.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124904230",
"hgnc_id": null,
"hgvs_c": "n.279+26300C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_007066243.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1513,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.23357954621315002,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 325,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14321,
"cdna_start": 716,
"cds_end": null,
"cds_length": 978,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_012243.3",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000533028.8",
"protein_coding": true,
"protein_id": "NP_036375.1",
"strand": true,
"transcript": "NM_012243.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 325,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14321,
"cdna_start": 716,
"cds_end": null,
"cds_length": 978,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000533028.8",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012243.3",
"protein_coding": true,
"protein_id": "ENSP00000433849.1",
"strand": true,
"transcript": "ENST00000533028.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 713,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2590,
"cdna_start": 694,
"cds_end": null,
"cds_length": 2142,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000639037.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283761",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492745.1",
"strand": true,
"transcript": "ENST00000639037.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 220,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2438,
"cdna_start": 706,
"cds_end": null,
"cds_length": 663,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000638336.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491145.1",
"strand": true,
"transcript": "ENST00000638336.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 689,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 701,
"cds_end": null,
"cds_length": 2070,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000638792.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283761",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491854.1",
"strand": true,
"transcript": "ENST00000638792.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 367,
"aa_ref": "M",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14282,
"cdna_start": 677,
"cds_end": null,
"cds_length": 1104,
"cds_start": 657,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001271685.2",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.657G>T",
"hgvs_p": "p.Met219Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258614.1",
"strand": true,
"transcript": "NM_001271685.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 367,
"aa_ref": "M",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5708,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1104,
"cds_start": 657,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000370153.6",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.657G>T",
"hgvs_p": "p.Met219Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359172.1",
"strand": true,
"transcript": "ENST00000370153.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 328,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 778,
"cds_end": null,
"cds_length": 987,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000640600.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491789.1",
"strand": true,
"transcript": "ENST00000640600.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 325,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14420,
"cdna_start": 815,
"cds_end": null,
"cds_length": 978,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438725.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425654.1",
"strand": true,
"transcript": "NM_001438725.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 325,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 832,
"cds_end": null,
"cds_length": 978,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000427993.7",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414947.2",
"strand": true,
"transcript": "ENST00000427993.7",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 325,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5696,
"cdna_start": 837,
"cds_end": null,
"cds_length": 978,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000465289.6",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418527.2",
"strand": true,
"transcript": "ENST00000465289.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 325,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 712,
"cds_end": null,
"cds_length": 978,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852947.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523006.1",
"strand": true,
"transcript": "ENST00000852947.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 325,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": 782,
"cds_end": null,
"cds_length": 978,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000852948.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523007.1",
"strand": true,
"transcript": "ENST00000852948.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 325,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 978,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000852950.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523009.1",
"strand": true,
"transcript": "ENST00000852950.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 325,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 912,
"cds_end": null,
"cds_length": 978,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852953.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523012.1",
"strand": true,
"transcript": "ENST00000852953.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 325,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 932,
"cds_end": null,
"cds_length": 978,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952985.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623044.1",
"strand": true,
"transcript": "ENST00000952985.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 325,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 870,
"cds_end": null,
"cds_length": 978,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952986.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623045.1",
"strand": true,
"transcript": "ENST00000952986.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 324,
"aa_ref": "M",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 972,
"cds_end": null,
"cds_length": 975,
"cds_start": 528,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852951.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.528G>T",
"hgvs_p": "p.Met176Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523010.1",
"strand": true,
"transcript": "ENST00000852951.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 318,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2298,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 957,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000638371.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Met177Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491146.1",
"strand": true,
"transcript": "ENST00000638371.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 676,
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