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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: 3-122912903-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=122912903&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEMA5B",
"hgnc_id": 10737,
"hgvs_c": "c.2827G>A",
"hgvs_p": "p.Gly943Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001256347.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 95,
"alphamissense_prediction": null,
"alphamissense_score": 0.1797,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "3",
"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": 0.17294374108314514,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "G",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4855,
"cdna_start": 3003,
"cds_end": null,
"cds_length": 3456,
"cds_start": 2665,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001031702.4",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2665G>A",
"hgvs_p": "p.Gly889Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357599.8",
"protein_coding": true,
"protein_id": "NP_001026872.2",
"strand": false,
"transcript": "NM_001031702.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "G",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4855,
"cdna_start": 3003,
"cds_end": null,
"cds_length": 3456,
"cds_start": 2665,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000357599.8",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2665G>A",
"hgvs_p": "p.Gly889Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001031702.4",
"protein_coding": true,
"protein_id": "ENSP00000350215.3",
"strand": false,
"transcript": "ENST00000357599.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1205,
"aa_ref": "G",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4579,
"cdna_start": 2838,
"cds_end": null,
"cds_length": 3618,
"cds_start": 2827,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001256347.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2827G>A",
"hgvs_p": "p.Gly943Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243276.1",
"strand": false,
"transcript": "NM_001256347.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1205,
"aa_ref": "G",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4579,
"cdna_start": 2838,
"cds_end": null,
"cds_length": 3618,
"cds_start": 2827,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000451055.6",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2827G>A",
"hgvs_p": "p.Gly943Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389588.2",
"strand": false,
"transcript": "ENST00000451055.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "G",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4813,
"cdna_start": 3075,
"cds_end": null,
"cds_length": 3528,
"cds_start": 2737,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001437563.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2737G>A",
"hgvs_p": "p.Gly913Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424492.1",
"strand": false,
"transcript": "NM_001437563.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1174,
"aa_ref": "G",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": 3075,
"cds_end": null,
"cds_length": 3525,
"cds_start": 2737,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001437565.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2737G>A",
"hgvs_p": "p.Gly913Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424494.1",
"strand": false,
"transcript": "NM_001437565.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "G",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5009,
"cdna_start": 3157,
"cds_end": null,
"cds_length": 3456,
"cds_start": 2665,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001256346.2",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2665G>A",
"hgvs_p": "p.Gly889Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243275.1",
"strand": false,
"transcript": "NM_001256346.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "G",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4933,
"cdna_start": 3192,
"cds_end": null,
"cds_length": 3456,
"cds_start": 2665,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000616742.4",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2665G>A",
"hgvs_p": "p.Gly889Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479602.1",
"strand": false,
"transcript": "ENST00000616742.4",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "G",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4517,
"cdna_start": 2780,
"cds_end": null,
"cds_length": 3456,
"cds_start": 2665,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000907747.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2665G>A",
"hgvs_p": "p.Gly889Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577806.1",
"strand": false,
"transcript": "ENST00000907747.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "G",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4738,
"cdna_start": 3000,
"cds_end": null,
"cds_length": 3453,
"cds_start": 2662,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001437573.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2662G>A",
"hgvs_p": "p.Gly888Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424502.1",
"strand": false,
"transcript": "NM_001437573.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "G",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4738,
"cdna_start": 3003,
"cds_end": null,
"cds_length": 3453,
"cds_start": 2665,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001437623.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2665G>A",
"hgvs_p": "p.Gly889Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424552.1",
"strand": false,
"transcript": "NM_001437623.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "G",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4898,
"cdna_start": 3164,
"cds_end": null,
"cds_length": 3453,
"cds_start": 2665,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000907744.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2665G>A",
"hgvs_p": "p.Gly889Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577803.1",
"strand": false,
"transcript": "ENST00000907744.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "G",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4704,
"cdna_start": 2966,
"cds_end": null,
"cds_length": 3450,
"cds_start": 2662,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000970353.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2662G>A",
"hgvs_p": "p.Gly888Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640412.1",
"strand": false,
"transcript": "ENST00000970353.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "G",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4677,
"cdna_start": 2941,
"cds_end": null,
"cds_length": 3432,
"cds_start": 2641,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000936475.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2641G>A",
"hgvs_p": "p.Gly881Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606534.1",
"strand": false,
"transcript": "ENST00000936475.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "G",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4696,
"cdna_start": 3003,
"cds_end": null,
"cds_length": 3411,
"cds_start": 2665,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001437550.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2665G>A",
"hgvs_p": "p.Gly889Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424479.1",
"strand": false,
"transcript": "NM_001437550.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "G",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4835,
"cdna_start": 3143,
"cds_end": null,
"cds_length": 3411,
"cds_start": 2665,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000907746.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2665G>A",
"hgvs_p": "p.Gly889Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577805.1",
"strand": false,
"transcript": "ENST00000907746.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "G",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 2777,
"cds_end": null,
"cds_length": 3411,
"cds_start": 2665,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000970355.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2665G>A",
"hgvs_p": "p.Gly889Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640414.1",
"strand": false,
"transcript": "ENST00000970355.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 3143,
"cds_end": null,
"cds_length": 3408,
"cds_start": 2665,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000907745.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2665G>A",
"hgvs_p": "p.Gly889Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577804.1",
"strand": false,
"transcript": "ENST00000907745.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1129,
"aa_ref": "G",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4529,
"cdna_start": 2791,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2599,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000970354.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2599G>A",
"hgvs_p": "p.Gly867Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640413.1",
"strand": false,
"transcript": "ENST00000970354.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "G",
"aa_start": 864,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4686,
"cdna_start": 2950,
"cds_end": null,
"cds_length": 3381,
"cds_start": 2590,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000936472.1",
"gene_hgnc_id": 10737,
"gene_symbol": "SEMA5B",
"hgvs_c": "c.2590G>A",
"hgvs_p": "p.Gly864Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606531.1",
"strand": false,
"transcript": "ENST00000936472.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "G",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4660,
"cdna_start": 2916,
"cds_end": null,
"cds_length": 3360,
"cds_start": 2569,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
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