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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: 1-203798607-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=203798607&ref=A&alt=G&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": "ZBED6",
"hgnc_id": 33273,
"hgvs_c": "c.1085A>G",
"hgvs_p": "p.Asp362Gly",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001174108.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZC3H11A",
"hgnc_id": 29093,
"hgvs_c": "c.-260+2111A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_014827.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1323,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08418309688568115,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 979,
"aa_ref": "D",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11697,
"cdna_start": 2985,
"cds_end": null,
"cds_length": 2940,
"cds_start": 1085,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001395895.1",
"gene_hgnc_id": 33273,
"gene_symbol": "ZBED6",
"hgvs_c": "c.1085A>G",
"hgvs_p": "p.Asp362Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000550078.3",
"protein_coding": true,
"protein_id": "NP_001382824.1",
"strand": true,
"transcript": "NM_001395895.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 979,
"aa_ref": "D",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11697,
"cdna_start": 2985,
"cds_end": null,
"cds_length": 2940,
"cds_start": 1085,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000550078.3",
"gene_hgnc_id": 33273,
"gene_symbol": "ZBED6",
"hgvs_c": "c.1085A>G",
"hgvs_p": "p.Asp362Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001395895.1",
"protein_coding": true,
"protein_id": "ENSP00000447879.1",
"strand": true,
"transcript": "ENST00000550078.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5917,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376342.1",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-1588+2813A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367210.3",
"protein_coding": true,
"protein_id": "NP_001363271.1",
"strand": true,
"transcript": "NM_001376342.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5917,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367210.3",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-1588+2813A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001376342.1",
"protein_coding": true,
"protein_id": "ENSP00000356179.1",
"strand": true,
"transcript": "ENST00000367210.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5015,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000332127.8",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-565+2111A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000333253.4",
"strand": true,
"transcript": "ENST00000332127.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367212.7",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-260+2111A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356181.3",
"strand": true,
"transcript": "ENST00000367212.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 979,
"aa_ref": "D",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 2940,
"cds_start": 1085,
"consequences": [
"missense_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001174108.2",
"gene_hgnc_id": 33273,
"gene_symbol": "ZBED6",
"hgvs_c": "c.1085A>G",
"hgvs_p": "p.Asp362Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167579.1",
"strand": true,
"transcript": "NM_001174108.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11825,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000639812.1",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-4555A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491830.1",
"strand": true,
"transcript": "ENST00000639812.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5203,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001319238.2",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-565+2006A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306167.1",
"strand": true,
"transcript": "NM_001319238.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5098,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001319239.2",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-565+2111A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306168.1",
"strand": true,
"transcript": "NM_001319239.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350261.2",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-260+2111A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337190.1",
"strand": true,
"transcript": "NM_001350261.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4740,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350262.2",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-260+2006A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337191.1",
"strand": true,
"transcript": "NM_001350262.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4589,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350263.2",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-260+2813A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337192.1",
"strand": true,
"transcript": "NM_001350263.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4923,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350264.2",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-594+2813A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337193.1",
"strand": true,
"transcript": "NM_001350264.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6068,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376334.1",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-1588+2006A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363263.1",
"strand": true,
"transcript": "NM_001376334.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4721,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376335.1",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-260+2006A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363264.1",
"strand": true,
"transcript": "NM_001376335.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4475,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376336.1",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-146+2813A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363265.1",
"strand": true,
"transcript": "NM_001376336.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4905,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376337.1",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-576+2813A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363266.1",
"strand": true,
"transcript": "NM_001376337.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6121,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376338.1",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-1588+2111A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363267.1",
"strand": true,
"transcript": "NM_001376338.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6102,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376339.1",
"gene_hgnc_id": 29093,
"gene_symbol": "ZC3H11A",
"hgvs_c": "c.-1588+2111A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363268.1",
"strand": true,
"transcript": "NM_001376339.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6049,
"cdna_start": null,
"cds_end": null,
"cds_length": 2433,
"cds_start": null,
"consequences": [
"intron_variant"
],
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