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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: 5-139329372-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=139329372&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 139329372,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001400441.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Arg841Gly",
"transcript": "NM_018834.6",
"protein_id": "NP_061322.2",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394805.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018834.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Arg841Gly",
"transcript": "ENST00000394805.8",
"protein_id": "ENSP00000378284.3",
"transcript_support_level": 1,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018834.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394805.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Arg889Gly",
"transcript": "ENST00000502929.5",
"protein_id": "ENSP00000422319.1",
"transcript_support_level": 2,
"aa_start": 889,
"aa_end": null,
"aa_length": 895,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502929.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Arg841Gly",
"transcript": "ENST00000618441.5",
"protein_id": "ENSP00000482895.1",
"transcript_support_level": 1,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618441.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "n.1974C>G",
"hgvs_p": null,
"transcript": "ENST00000502422.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000502422.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "n.6241C>G",
"hgvs_p": null,
"transcript": "ENST00000505625.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505625.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Arg889Gly",
"transcript": "NM_001400441.1",
"protein_id": "NP_001387370.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 895,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400441.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Arg889Gly",
"transcript": "NM_001400442.1",
"protein_id": "NP_001387371.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 895,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400442.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Arg889Gly",
"transcript": "NM_001400443.1",
"protein_id": "NP_001387372.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 895,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400443.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Arg889Gly",
"transcript": "NM_001400444.1",
"protein_id": "NP_001387373.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 895,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400444.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Arg889Gly",
"transcript": "NM_001400445.1",
"protein_id": "NP_001387374.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 895,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400445.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Arg889Gly",
"transcript": "ENST00000394800.6",
"protein_id": "ENSP00000378279.2",
"transcript_support_level": 5,
"aa_start": 889,
"aa_end": null,
"aa_length": 895,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394800.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Arg889Gly",
"transcript": "ENST00000910014.1",
"protein_id": "ENSP00000580073.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 895,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910014.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Arg889Gly",
"transcript": "ENST00000910016.1",
"protein_id": "ENSP00000580075.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 895,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910016.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Arg889Gly",
"transcript": "ENST00000910028.1",
"protein_id": "ENSP00000580087.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 895,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910028.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Arg889Gly",
"transcript": "ENST00000928206.1",
"protein_id": "ENSP00000598265.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 895,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928206.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Arg889Gly",
"transcript": "ENST00000928207.1",
"protein_id": "ENSP00000598266.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 895,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928207.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2665C>G",
"hgvs_p": "p.Arg889Gly",
"transcript": "ENST00000955717.1",
"protein_id": "ENSP00000625776.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 895,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955717.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2659C>G",
"hgvs_p": "p.Arg887Gly",
"transcript": "ENST00000928208.1",
"protein_id": "ENSP00000598267.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 893,
"cds_start": 2659,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928208.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2587C>G",
"hgvs_p": "p.Arg863Gly",
"transcript": "ENST00000910031.1",
"protein_id": "ENSP00000580090.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 869,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910031.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2566C>G",
"hgvs_p": "p.Arg856Gly",
"transcript": "ENST00000910020.1",
"protein_id": "ENSP00000580079.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 862,
"cds_start": 2566,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910020.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.2566C>G",
"hgvs_p": "p.Arg856Gly",
"transcript": "ENST00000955716.1",
"protein_id": "ENSP00000625775.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 862,
"cds_start": 2566,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.24,
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{
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"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
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],
"clinvar_disease": "Amyotrophic lateral sclerosis type 21",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Amyotrophic lateral sclerosis type 21",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}