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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: 15-78886182-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78886182&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78886182,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_206839.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.197T>C",
"hgvs_p": "p.Val66Ala",
"transcript": "NM_006791.4",
"protein_id": "NP_006782.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 323,
"cds_start": 197,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000426013.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006791.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.197T>C",
"hgvs_p": "p.Val66Ala",
"transcript": "ENST00000426013.7",
"protein_id": "ENSP00000408880.2",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 323,
"cds_start": 197,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006791.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426013.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.314T>C",
"hgvs_p": "p.Val105Ala",
"transcript": "ENST00000331268.9",
"protein_id": "ENSP00000331310.5",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 362,
"cds_start": 314,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331268.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "n.242T>C",
"hgvs_p": null,
"transcript": "ENST00000558893.5",
"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": "ENST00000558893.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.197T>C",
"hgvs_p": "p.Val66Ala",
"transcript": "ENST00000718282.1",
"protein_id": "ENSP00000520721.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 410,
"cds_start": 197,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718282.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.314T>C",
"hgvs_p": "p.Val105Ala",
"transcript": "NM_206839.3",
"protein_id": "NP_996670.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 362,
"cds_start": 314,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206839.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Val91Ala",
"transcript": "ENST00000379535.8",
"protein_id": "ENSP00000368850.4",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 348,
"cds_start": 272,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379535.8"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.197T>C",
"hgvs_p": "p.Val66Ala",
"transcript": "ENST00000715747.1",
"protein_id": "ENSP00000520514.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 338,
"cds_start": 197,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715747.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.314T>C",
"hgvs_p": "p.Val105Ala",
"transcript": "ENST00000878184.1",
"protein_id": "ENSP00000548243.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 335,
"cds_start": 314,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878184.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.197T>C",
"hgvs_p": "p.Val66Ala",
"transcript": "ENST00000957655.1",
"protein_id": "ENSP00000627714.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 322,
"cds_start": 197,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957655.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.197T>C",
"hgvs_p": "p.Val66Ala",
"transcript": "ENST00000878185.1",
"protein_id": "ENSP00000548244.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 315,
"cds_start": 197,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878185.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.197T>C",
"hgvs_p": "p.Val66Ala",
"transcript": "ENST00000878183.1",
"protein_id": "ENSP00000548242.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 296,
"cds_start": 197,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878183.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.197T>C",
"hgvs_p": "p.Val66Ala",
"transcript": "ENST00000924054.1",
"protein_id": "ENSP00000594113.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 295,
"cds_start": 197,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924054.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.197T>C",
"hgvs_p": "p.Val66Ala",
"transcript": "ENST00000558746.5",
"protein_id": "ENSP00000453231.1",
"transcript_support_level": 3,
"aa_start": 66,
"aa_end": null,
"aa_length": 269,
"cds_start": 197,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558746.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Val76Ala",
"transcript": "ENST00000560422.5",
"protein_id": "ENSP00000453625.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 244,
"cds_start": 227,
"cds_end": null,
"cds_length": 736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560422.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.242T>C",
"hgvs_p": "p.Val81Ala",
"transcript": "ENST00000559751.1",
"protein_id": "ENSP00000453972.1",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 211,
"cds_start": 242,
"cds_end": null,
"cds_length": 637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559751.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.197T>C",
"hgvs_p": "p.Val66Ala",
"transcript": "ENST00000924053.1",
"protein_id": "ENSP00000594112.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 135,
"cds_start": 197,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924053.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.197T>C",
"hgvs_p": "p.Val66Ala",
"transcript": "ENST00000924055.1",
"protein_id": "ENSP00000594114.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 108,
"cds_start": 197,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924055.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.-68T>C",
"hgvs_p": null,
"transcript": "NM_001265603.2",
"protein_id": "NP_001252532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265603.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.-68T>C",
"hgvs_p": null,
"transcript": "NM_001265604.2",
"protein_id": "NP_001252533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265604.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.-68T>C",
"hgvs_p": null,
"transcript": "NM_001265605.2",
"protein_id": "NP_001252534.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265605.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORF4L1",
"gene_hgnc_id": 16989,
"hgvs_c": "c.-68T>C",
"hgvs_p": null,
"transcript": "ENST00000558502.5",
"protein_id": "ENSP00000452808.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558502.5"
},
{
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{
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],
"clinvar_disease": "not specified",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}