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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: 6-37218973-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=37218973&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM217",
"hgnc_id": 21238,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_145316.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TMEM217B",
"hgnc_id": 55922,
"hgvs_c": "c.-112-3691G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001395377.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1374,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.27210646867752075,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": 646,
"cds_end": null,
"cds_length": 636,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001286401.2",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651039.2",
"protein_coding": true,
"protein_id": "NP_001273330.1",
"strand": false,
"transcript": "NM_001286401.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": 646,
"cds_end": null,
"cds_length": 636,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000651039.2",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001286401.2",
"protein_coding": true,
"protein_id": "ENSP00000499204.1",
"strand": false,
"transcript": "ENST00000651039.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1507,
"cdna_start": 144,
"cds_end": null,
"cds_length": 636,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000356757.7",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349198.2",
"strand": false,
"transcript": "ENST00000356757.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 202,
"aa_ref": "V",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 624,
"cds_end": null,
"cds_length": 609,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000357219.4",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498422.1",
"strand": false,
"transcript": "ENST00000357219.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 170,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1393,
"cdna_start": null,
"cds_end": null,
"cds_length": 513,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395378.1",
"gene_hgnc_id": 55922,
"gene_symbol": "TMEM217B",
"hgvs_c": "c.-27-5977G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000497775.2",
"protein_coding": true,
"protein_id": "NP_001382307.1",
"strand": false,
"transcript": "NM_001395378.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 170,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1393,
"cdna_start": null,
"cds_end": null,
"cds_length": 513,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000497775.2",
"gene_hgnc_id": 55922,
"gene_symbol": "TMEM217B",
"hgvs_c": "c.-27-5977G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001395378.1",
"protein_coding": true,
"protein_id": "ENSP00000499172.1",
"strand": false,
"transcript": "ENST00000497775.2",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 229,
"aa_ref": "V",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 101,
"cds_end": null,
"cds_length": 690,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_145316.4",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_660359.2",
"strand": false,
"transcript": "NM_145316.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 229,
"aa_ref": "V",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 101,
"cds_end": null,
"cds_length": 690,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000336655.7",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338164.2",
"strand": false,
"transcript": "ENST00000336655.7",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 218,
"aa_ref": "V",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 651,
"cds_end": null,
"cds_length": 657,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001395238.1",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382167.1",
"strand": false,
"transcript": "NM_001395238.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 106,
"cds_end": null,
"cds_length": 636,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001371555.1",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358484.1",
"strand": false,
"transcript": "NM_001371555.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 210,
"aa_ref": "V",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 626,
"cds_end": null,
"cds_length": 633,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000652386.1",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498681.1",
"strand": false,
"transcript": "ENST00000652386.1",
"transcript_support_level": null
},
{
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"aa_length": 207,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 646,
"cds_end": null,
"cds_length": 624,
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"consequences": [
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],
"exon_count": 3,
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"feature": "NM_001395244.1",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382173.1",
"strand": false,
"transcript": "NM_001395244.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 155,
"cds_end": null,
"cds_length": 624,
"cds_start": 58,
"consequences": [
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],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000652495.1",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499097.1",
"strand": false,
"transcript": "ENST00000652495.1",
"transcript_support_level": null
},
{
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"aa_length": 202,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": 651,
"cds_end": null,
"cds_length": 609,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001162900.3",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001156372.1",
"strand": false,
"transcript": "NM_001162900.3",
"transcript_support_level": null
},
{
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"aa_length": 202,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 646,
"cds_end": null,
"cds_length": 609,
"cds_start": 58,
"consequences": [
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],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001395240.1",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382169.1",
"strand": false,
"transcript": "NM_001395240.1",
"transcript_support_level": null
},
{
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"aa_length": 202,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 662,
"cds_end": null,
"cds_length": 609,
"cds_start": 58,
"consequences": [
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],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000652639.1",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498333.1",
"strand": false,
"transcript": "ENST00000652639.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 193,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 646,
"cds_end": null,
"cds_length": 582,
"cds_start": 58,
"consequences": [
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],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001395243.1",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382172.1",
"strand": false,
"transcript": "NM_001395243.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 193,
"aa_ref": "V",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": 156,
"cds_end": null,
"cds_length": 582,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000652218.1",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498862.1",
"strand": false,
"transcript": "ENST00000652218.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 127,
"aa_ref": "V",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1778,
"cdna_start": 651,
"cds_end": null,
"cds_length": 384,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001395241.1",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382170.1",
"strand": false,
"transcript": "NM_001395241.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 127,
"aa_ref": "V",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 646,
"cds_end": null,
"cds_length": 384,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001395242.1",
"gene_hgnc_id": 21238,
"gene_symbol": "TMEM217",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382171.1",
"strand": false,
"transcript": "NM_001395242.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 170,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": null,
"cds_end": null,
"cds_length": 513,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
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