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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: 1-154274959-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154274959&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HAX1",
"hgnc_id": 16915,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Val172Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_006118.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1",
"acmg_score": -16,
"allele_count_reference_population": 184,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0626,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "1",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Kostmann syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003443211317062378,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 279,
"aa_ref": "V",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1109,
"cdna_start": 609,
"cds_end": null,
"cds_length": 840,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_006118.4",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Val172Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000328703.12",
"protein_coding": true,
"protein_id": "NP_006109.2",
"strand": true,
"transcript": "NM_006118.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 279,
"aa_ref": "V",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1109,
"cdna_start": 609,
"cds_end": null,
"cds_length": 840,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000328703.12",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Val172Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006118.4",
"protein_coding": true,
"protein_id": "ENSP00000329002.7",
"strand": true,
"transcript": "ENST00000328703.12",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 231,
"aa_ref": "V",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 914,
"cdna_start": 505,
"cds_end": null,
"cds_length": 696,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000457918.6",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Val124Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411448.2",
"strand": true,
"transcript": "ENST00000457918.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 287,
"aa_ref": "V",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1153,
"cdna_start": 653,
"cds_end": null,
"cds_length": 864,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000483970.7",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Val180Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435088.1",
"strand": true,
"transcript": "ENST00000483970.7",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 286,
"aa_ref": "V",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1104,
"cdna_start": 609,
"cds_end": null,
"cds_length": 861,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950411.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Val180Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620470.1",
"strand": true,
"transcript": "ENST00000950411.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 283,
"aa_ref": "M",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 908,
"cdna_start": 506,
"cds_end": null,
"cds_length": 852,
"cds_start": 450,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000435087.2",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Met150Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394920.2",
"strand": true,
"transcript": "ENST00000435087.2",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 279,
"aa_ref": "V",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1189,
"cdna_start": 691,
"cds_end": null,
"cds_length": 840,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696932.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Val172Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512979.1",
"strand": true,
"transcript": "ENST00000696932.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 279,
"aa_ref": "V",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1102,
"cdna_start": 605,
"cds_end": null,
"cds_length": 840,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882498.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Val172Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552557.1",
"strand": true,
"transcript": "ENST00000882498.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 279,
"aa_ref": "V",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1263,
"cdna_start": 763,
"cds_end": null,
"cds_length": 840,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882499.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Val172Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552558.1",
"strand": true,
"transcript": "ENST00000882499.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1220,
"cdna_start": 716,
"cds_end": null,
"cds_length": 837,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919722.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Val172Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589781.1",
"strand": true,
"transcript": "ENST00000919722.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 277,
"aa_ref": "V",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1146,
"cdna_start": 652,
"cds_end": null,
"cds_length": 834,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919723.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Val172Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589782.1",
"strand": true,
"transcript": "ENST00000919723.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 276,
"aa_ref": "V",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1104,
"cdna_start": 620,
"cds_end": null,
"cds_length": 831,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696938.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512983.1",
"strand": true,
"transcript": "ENST00000696938.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 253,
"aa_ref": "V",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1099,
"cdna_start": 599,
"cds_end": null,
"cds_length": 762,
"cds_start": 436,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696941.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Val146Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512986.1",
"strand": true,
"transcript": "ENST00000696941.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 253,
"aa_ref": "V",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1092,
"cdna_start": 592,
"cds_end": null,
"cds_length": 762,
"cds_start": 436,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000697592.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Val146Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513356.1",
"strand": true,
"transcript": "ENST00000697592.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 253,
"aa_ref": "V",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 855,
"cdna_start": 529,
"cds_end": null,
"cds_length": 762,
"cds_start": 436,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000697830.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Val146Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513452.1",
"strand": true,
"transcript": "ENST00000697830.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 240,
"aa_ref": "V",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 977,
"cdna_start": 480,
"cds_end": null,
"cds_length": 723,
"cds_start": 397,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882502.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Val133Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552561.1",
"strand": true,
"transcript": "ENST00000882502.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 231,
"aa_ref": "V",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 965,
"cdna_start": 465,
"cds_end": null,
"cds_length": 696,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001018837.2",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Val124Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001018238.1",
"strand": true,
"transcript": "NM_001018837.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 210,
"aa_ref": "V",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 823,
"cdna_start": 624,
"cds_end": null,
"cds_length": 635,
"cds_start": 436,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696944.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Val146Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512989.1",
"strand": true,
"transcript": "ENST00000696944.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 205,
"aa_ref": "V",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 913,
"cdna_start": 413,
"cds_end": null,
"cds_length": 618,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919725.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Val98Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589784.1",
"strand": true,
"transcript": "ENST00000919725.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 195,
"aa_ref": "V",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 862,
"cdna_start": 362,
"cds_end": null,
"cds_length": 588,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000882500.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552559.1",
"strand": true,
"transcript": "ENST00000882500.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 151,
"aa_ref": "V",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 771,
"cdna_start": 307,
"cds_end": null,
"cds_length": 456,
"cds_start": 130,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000532105.1",
"gene_hgnc_id": 16915,
"gene_symbol": "HAX1",
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
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