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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: 5-139307875-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=139307875&ref=C&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": "MATR3",
"hgnc_id": 6912,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001400441.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0755,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Amyotrophic lateral sclerosis type 21",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.20779597759246826,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "P",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5069,
"cdna_start": 703,
"cds_end": null,
"cds_length": 2544,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_018834.6",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394805.8",
"protein_coding": true,
"protein_id": "NP_061322.2",
"strand": true,
"transcript": "NM_018834.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "P",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5069,
"cdna_start": 703,
"cds_end": null,
"cds_length": 2544,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000394805.8",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018834.6",
"protein_coding": true,
"protein_id": "ENSP00000378284.3",
"strand": true,
"transcript": "ENST00000394805.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4373,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 2688,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000502929.5",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422319.1",
"strand": true,
"transcript": "ENST00000502929.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "P",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4018,
"cdna_start": 888,
"cds_end": null,
"cds_length": 2544,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000618441.5",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482895.1",
"strand": true,
"transcript": "ENST00000618441.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5242,
"cdna_start": 732,
"cds_end": null,
"cds_length": 2688,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001400441.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387370.1",
"strand": true,
"transcript": "NM_001400441.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5399,
"cdna_start": 889,
"cds_end": null,
"cds_length": 2688,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001400442.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387371.1",
"strand": true,
"transcript": "NM_001400442.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5238,
"cdna_start": 728,
"cds_end": null,
"cds_length": 2688,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001400443.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387372.1",
"strand": true,
"transcript": "NM_001400443.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5522,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 2688,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001400444.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387373.1",
"strand": true,
"transcript": "NM_001400444.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 895,
"aa_ref": "P",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6405,
"cdna_start": 1895,
"cds_end": null,
"cds_length": 2688,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001400445.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387374.1",
"strand": true,
"transcript": "NM_001400445.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 895,
"aa_ref": "P",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5513,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 2688,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000394800.6",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378279.2",
"strand": true,
"transcript": "ENST00000394800.6",
"transcript_support_level": 5
},
{
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"aa_length": 895,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5028,
"cdna_start": 833,
"cds_end": null,
"cds_length": 2688,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910014.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580073.1",
"strand": true,
"transcript": "ENST00000910014.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4018,
"cdna_start": 744,
"cds_end": null,
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"cds_start": 460,
"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000910016.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580075.1",
"strand": true,
"transcript": "ENST00000910016.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 722,
"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000910028.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580087.1",
"strand": true,
"transcript": "ENST00000910028.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 895,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4113,
"cdna_start": 725,
"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000928206.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598265.1",
"strand": true,
"transcript": "ENST00000928206.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 15,
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"exon_rank_end": null,
"feature": "ENST00000928207.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598266.1",
"strand": true,
"transcript": "ENST00000928207.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 735,
"cds_end": null,
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"cds_start": 460,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000955717.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625776.1",
"strand": true,
"transcript": "ENST00000955717.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 3989,
"cdna_start": 723,
"cds_end": null,
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],
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"feature": "ENST00000928208.1",
"gene_hgnc_id": 6912,
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"hgvs_c": "c.460C>T",
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"transcript": "ENST00000928208.1",
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},
{
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],
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"feature": "ENST00000910031.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000580090.1",
"strand": true,
"transcript": "ENST00000910031.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 757,
"cds_end": null,
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"consequences": [
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],
"exon_count": 16,
"exon_rank": 2,
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"feature": "ENST00000910020.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000580079.1",
"strand": true,
"transcript": "ENST00000910020.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "P",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3830,
"cdna_start": 698,
"cds_end": null,
"cds_length": 2589,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000955716.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625775.1",
"strand": true,
"transcript": "ENST00000955716.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 847,
"aa_ref": "P",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5173,
"cdna_start": 807,
"cds_end": null,
"cds_length": 2544,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001194954.2",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"intron_rank": null,
"intron_rank_end": null,
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