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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: 3-172759020-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=172759020&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 172759020,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001349094.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg",
"transcript": "NM_001258315.2",
"protein_id": "NP_001245244.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 914,
"cds_start": 527,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392692.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258315.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg",
"transcript": "ENST00000392692.8",
"protein_id": "ENSP00000376457.3",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 914,
"cds_start": 527,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001258315.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392692.8"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Met145Arg",
"transcript": "ENST00000232458.9",
"protein_id": "ENSP00000232458.5",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 883,
"cds_start": 434,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000232458.9"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Met145Arg",
"transcript": "ENST00000441497.6",
"protein_id": "ENSP00000412259.2",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 883,
"cds_start": 434,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441497.6"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.431T>G",
"hgvs_p": "p.Met144Arg",
"transcript": "ENST00000417960.5",
"protein_id": "ENSP00000415876.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 882,
"cds_start": 431,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417960.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg",
"transcript": "NM_001349094.2",
"protein_id": "NP_001336023.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 958,
"cds_start": 527,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349094.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg",
"transcript": "NM_001349095.2",
"protein_id": "NP_001336024.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 958,
"cds_start": 527,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349095.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg",
"transcript": "NM_001349096.2",
"protein_id": "NP_001336025.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 958,
"cds_start": 527,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349096.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.524T>G",
"hgvs_p": "p.Met175Arg",
"transcript": "NM_001349097.2",
"protein_id": "NP_001336026.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 957,
"cds_start": 524,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349097.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg",
"transcript": "ENST00000921496.1",
"protein_id": "ENSP00000591555.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 950,
"cds_start": 527,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921496.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Met145Arg",
"transcript": "NM_001349101.2",
"protein_id": "NP_001336030.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 927,
"cds_start": 434,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349101.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg",
"transcript": "ENST00000894235.1",
"protein_id": "ENSP00000564294.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 923,
"cds_start": 527,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894235.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg",
"transcript": "NM_001349098.2",
"protein_id": "NP_001336027.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 914,
"cds_start": 527,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349098.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg",
"transcript": "NM_001349099.2",
"protein_id": "NP_001336028.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 914,
"cds_start": 527,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349099.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg",
"transcript": "NM_001349100.2",
"protein_id": "NP_001336029.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 914,
"cds_start": 527,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349100.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg",
"transcript": "ENST00000894233.1",
"protein_id": "ENSP00000564292.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 914,
"cds_start": 527,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894233.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg",
"transcript": "ENST00000921500.1",
"protein_id": "ENSP00000591559.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 914,
"cds_start": 527,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921500.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg",
"transcript": "ENST00000921501.1",
"protein_id": "ENSP00000591560.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 914,
"cds_start": 527,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921501.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.524T>G",
"hgvs_p": "p.Met175Arg",
"transcript": "ENST00000921495.1",
"protein_id": "ENSP00000591554.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 913,
"cds_start": 524,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921495.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Met145Arg",
"transcript": "ENST00000894234.1",
"protein_id": "ENSP00000564293.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 889,
"cds_start": 434,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894234.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Met145Arg",
"transcript": "NM_001258316.2",
"protein_id": "NP_001245245.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 883,
"cds_start": 434,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258316.2"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Met145Arg",
"transcript": "NM_018098.6",
"protein_id": "NP_060568.3",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 883,
"cds_start": 434,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018098.6"
},
{
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.1,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001349094.2",
"gene_symbol": "ECT2",
"hgnc_id": 3155,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Met176Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}