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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: 15-78880527-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78880527&ref=A&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": "MORF4L1",
"hgnc_id": 16989,
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_206839.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1789,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2319357991218567,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 323,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 231,
"cds_end": null,
"cds_length": 972,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_006791.4",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000426013.7",
"protein_coding": true,
"protein_id": "NP_006782.1",
"strand": true,
"transcript": "NM_006791.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 323,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 231,
"cds_end": null,
"cds_length": 972,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000426013.7",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006791.4",
"protein_coding": true,
"protein_id": "ENSP00000408880.2",
"strand": true,
"transcript": "ENST00000426013.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 362,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1089,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000331268.9",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000331310.5",
"strand": true,
"transcript": "ENST00000331268.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1209,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000558893.5",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "n.148A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000558893.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 285,
"cds_end": null,
"cds_length": 1233,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000718282.1",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520721.1",
"strand": true,
"transcript": "ENST00000718282.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 362,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 231,
"cds_end": null,
"cds_length": 1089,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_206839.3",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996670.1",
"strand": true,
"transcript": "NM_206839.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 348,
"aa_ref": "I",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2274,
"cdna_start": 742,
"cds_end": null,
"cds_length": 1047,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000379535.8",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.178A>T",
"hgvs_p": "p.Ile60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368850.4",
"strand": true,
"transcript": "ENST00000379535.8",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1215,
"cdna_start": 135,
"cds_end": null,
"cds_length": 1017,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000715747.1",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520514.1",
"strand": true,
"transcript": "ENST00000715747.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 335,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 264,
"cds_end": null,
"cds_length": 1008,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878184.1",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548243.1",
"strand": true,
"transcript": "ENST00000878184.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 322,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1825,
"cdna_start": 290,
"cds_end": null,
"cds_length": 969,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000957655.1",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627714.1",
"strand": true,
"transcript": "ENST00000957655.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 315,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 180,
"cds_end": null,
"cds_length": 948,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878185.1",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548244.1",
"strand": true,
"transcript": "ENST00000878185.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 296,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 291,
"cds_end": null,
"cds_length": 891,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878183.1",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548242.1",
"strand": true,
"transcript": "ENST00000878183.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": 143,
"cds_end": null,
"cds_length": 888,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000924054.1",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594113.1",
"strand": true,
"transcript": "ENST00000924054.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 874,
"cdna_start": 167,
"cds_end": null,
"cds_length": 810,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000558746.5",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453231.1",
"strand": true,
"transcript": "ENST00000558746.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 267,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": 170,
"cds_end": null,
"cds_length": 804,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878186.1",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548245.1",
"strand": true,
"transcript": "ENST00000878186.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 244,
"aa_ref": "I",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 761,
"cdna_start": 158,
"cds_end": null,
"cds_length": 736,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000560422.5",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.133A>T",
"hgvs_p": "p.Ile45Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453625.1",
"strand": true,
"transcript": "ENST00000560422.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "I",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 639,
"cdna_start": 36,
"cds_end": null,
"cds_length": 637,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000559751.1",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.34A>T",
"hgvs_p": "p.Ile12Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453972.1",
"strand": true,
"transcript": "ENST00000559751.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 135,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1142,
"cdna_start": 168,
"cds_end": null,
"cds_length": 408,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000924053.1",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594112.1",
"strand": true,
"transcript": "ENST00000924053.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 108,
"aa_ref": "I",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 602,
"cdna_start": 204,
"cds_end": null,
"cds_length": 327,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000924055.1",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.103A>T",
"hgvs_p": "p.Ile35Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594114.1",
"strand": true,
"transcript": "ENST00000924055.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 235,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": null,
"cds_end": null,
"cds_length": 708,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001265604.2",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.-162A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001252533.1",
"strand": true,
"transcript": "NM_001265604.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 235,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": null,
"cds_end": null,
"cds_length": 708,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001265605.2",
"gene_hgnc_id": 16989,
"gene_symbol": "MORF4L1",
"hgvs_c": "c.-162A>T",
"hgvs_p": null,
"intron_rank": null,
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