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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: 20-64083569-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=64083569&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 64083569,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001007125.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LKAAEAR1",
"gene_hgnc_id": 33718,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Pro180Leu",
"transcript": "ENST00000308906.6",
"protein_id": "ENSP00000310801.2",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 240,
"cds_start": 539,
"cds_end": null,
"cds_length": 723,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308906.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OPRL1",
"gene_hgnc_id": 8155,
"hgvs_c": "c.-185+3217G>A",
"hgvs_p": null,
"transcript": "NM_182647.4",
"protein_id": "NP_872588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": "ENST00000336866.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182647.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OPRL1",
"gene_hgnc_id": 8155,
"hgvs_c": "c.-185+3217G>A",
"hgvs_p": null,
"transcript": "ENST00000336866.7",
"protein_id": "ENSP00000336843.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": "NM_182647.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336866.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LKAAEAR1",
"gene_hgnc_id": 33718,
"hgvs_c": "c.525+14C>T",
"hgvs_p": null,
"transcript": "NM_001353425.2",
"protein_id": "NP_001340354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 823,
"mane_select": "ENST00000302096.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353425.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LKAAEAR1",
"gene_hgnc_id": 33718,
"hgvs_c": "c.525+14C>T",
"hgvs_p": null,
"transcript": "ENST00000302096.5",
"protein_id": "ENSP00000302763.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 823,
"mane_select": "NM_001353425.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302096.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OPRL1",
"gene_hgnc_id": 8155,
"hgvs_c": "c.-34+3217G>A",
"hgvs_p": null,
"transcript": "ENST00000355631.8",
"protein_id": "ENSP00000347848.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355631.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LKAAEAR1",
"gene_hgnc_id": 33718,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Pro180Leu",
"transcript": "NM_001007125.3",
"protein_id": "NP_001007126.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 240,
"cds_start": 539,
"cds_end": null,
"cds_length": 723,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007125.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LKAAEAR1",
"gene_hgnc_id": 33718,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Pro180Leu",
"transcript": "XM_024451849.2",
"protein_id": "XP_024307617.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 240,
"cds_start": 539,
"cds_end": null,
"cds_length": 723,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451849.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LKAAEAR1",
"gene_hgnc_id": 33718,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Pro180Leu",
"transcript": "XM_024451850.2",
"protein_id": "XP_024307618.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 240,
"cds_start": 539,
"cds_end": null,
"cds_length": 723,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451850.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OPRL1",
"gene_hgnc_id": 8155,
"hgvs_c": "c.-185+3217G>A",
"hgvs_p": null,
"transcript": "NM_001318853.2",
"protein_id": "NP_001305782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318853.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OPRL1",
"gene_hgnc_id": 8155,
"hgvs_c": "c.-185+3217G>A",
"hgvs_p": null,
"transcript": "ENST00000672146.3",
"protein_id": "ENSP00000500894.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672146.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OPRL1",
"gene_hgnc_id": 8155,
"hgvs_c": "c.-34+3217G>A",
"hgvs_p": null,
"transcript": "NM_000913.6",
"protein_id": "NP_000904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000913.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OPRL1",
"gene_hgnc_id": 8155,
"hgvs_c": "c.-300+3217G>A",
"hgvs_p": null,
"transcript": "ENST00000879249.1",
"protein_id": "ENSP00000549308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879249.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OPRL1",
"gene_hgnc_id": 8155,
"hgvs_c": "c.-254+3217G>A",
"hgvs_p": null,
"transcript": "ENST00000921128.1",
"protein_id": "ENSP00000591187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921128.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OPRL1",
"gene_hgnc_id": 8155,
"hgvs_c": "c.-320+3217G>A",
"hgvs_p": null,
"transcript": "ENST00000942720.1",
"protein_id": "ENSP00000612779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942720.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OPRL1",
"gene_hgnc_id": 8155,
"hgvs_c": "c.-34+3217G>A",
"hgvs_p": null,
"transcript": "ENST00000942721.1",
"protein_id": "ENSP00000612780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": null,
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"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942721.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LKAAEAR1",
"gene_hgnc_id": 33718,
"hgvs_c": "c.525+14C>T",
"hgvs_p": null,
"transcript": "NM_001386971.1",
"protein_id": "NP_001373900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386971.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LKAAEAR1",
"gene_hgnc_id": 33718,
"hgvs_c": "c.525+14C>T",
"hgvs_p": null,
"transcript": "ENST00000879466.1",
"protein_id": "ENSP00000549525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879466.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OPRL1",
"gene_hgnc_id": 8155,
"hgvs_c": "c.-185+3217G>A",
"hgvs_p": null,
"transcript": "XM_047440155.1",
"protein_id": "XP_047296111.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440155.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OPRL1",
"gene_hgnc_id": 8155,
"hgvs_c": "c.-34+3217G>A",
"hgvs_p": null,
"transcript": "XM_047440156.1",
"protein_id": "XP_047296112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440156.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OPRL1",
"gene_hgnc_id": 8155,
"hgvs_c": "c.-11+3217G>A",
"hgvs_p": null,
"transcript": "XM_047440157.1",
"protein_id": "XP_047296113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440157.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LKAAEAR1",
"gene_hgnc_id": 33718,
"hgvs_c": "c.525+14C>T",
"hgvs_p": null,
"transcript": "XM_047439963.1",
"protein_id": "XP_047295919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439963.1"
}
],
"gene_symbol": "LKAAEAR1",
"gene_hgnc_id": 33718,
"dbsnp": "rs768464574",
"frequency_reference_population": 0.000015078685,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000131079,
"gnomad_genomes_af": 0.0000328705,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.013404667377471924,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.108,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.051,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001007125.3",
"gene_symbol": "LKAAEAR1",
"hgnc_id": 33718,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Pro180Leu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001318853.2",
"gene_symbol": "OPRL1",
"hgnc_id": 8155,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-185+3217G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}