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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: 17-34986111-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=34986111&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 34986111,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013975.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "NM_013975.4",
"protein_id": "NP_039269.2",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1009,
"cds_start": 671,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378526.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013975.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "ENST00000378526.9",
"protein_id": "ENSP00000367787.3",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 1009,
"cds_start": 671,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013975.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378526.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "ENST00000262327.9",
"protein_id": "ENSP00000262327.4",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 949,
"cds_start": 671,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262327.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.698G>T",
"hgvs_p": "p.Arg233Leu",
"transcript": "ENST00000585941.5",
"protein_id": "ENSP00000468479.1",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 544,
"cds_start": 698,
"cds_end": null,
"cds_length": 1636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585941.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "n.721G>T",
"hgvs_p": null,
"transcript": "ENST00000590181.5",
"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": "ENST00000590181.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.-143G>T",
"hgvs_p": null,
"transcript": "ENST00000585740.5",
"protein_id": "ENSP00000467757.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": null,
"cds_end": null,
"cds_length": 557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585740.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.-143G>T",
"hgvs_p": null,
"transcript": "XM_047435972.1",
"protein_id": "XP_047291928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435972.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "ENST00000858902.1",
"protein_id": "ENSP00000528961.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1009,
"cds_start": 671,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858902.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "ENST00000858903.1",
"protein_id": "ENSP00000528962.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1009,
"cds_start": 671,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858903.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "ENST00000932519.1",
"protein_id": "ENSP00000602578.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1009,
"cds_start": 671,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932519.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "ENST00000932520.1",
"protein_id": "ENSP00000602579.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1009,
"cds_start": 671,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932520.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "ENST00000961393.1",
"protein_id": "ENSP00000631452.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1009,
"cds_start": 671,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961393.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "ENST00000961396.1",
"protein_id": "ENSP00000631455.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1009,
"cds_start": 671,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961396.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "ENST00000961395.1",
"protein_id": "ENSP00000631454.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 996,
"cds_start": 671,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961395.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "ENST00000961394.1",
"protein_id": "ENSP00000631453.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 984,
"cds_start": 671,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961394.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "NM_002311.5",
"protein_id": "NP_002302.2",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 949,
"cds_start": 671,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002311.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "ENST00000858901.1",
"protein_id": "ENSP00000528960.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 939,
"cds_start": 671,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858901.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000592690.1",
"protein_id": "ENSP00000467063.1",
"transcript_support_level": 2,
"aa_start": 137,
"aa_end": null,
"aa_length": 206,
"cds_start": 410,
"cds_end": null,
"cds_length": 622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592690.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.698G>T",
"hgvs_p": "p.Arg233Leu",
"transcript": "XM_047435968.1",
"protein_id": "XP_047291924.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1054,
"cds_start": 698,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435968.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "XM_047435969.1",
"protein_id": "XP_047291925.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1045,
"cds_start": 671,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435969.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Arg224Leu",
"transcript": "XM_047435970.1",
"protein_id": "XP_047291926.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1045,
"cds_start": 671,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435970.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.698G>T",
"hgvs_p": "p.Arg233Leu",
"transcript": "XM_005257970.5",
"protein_id": "XP_005258027.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1018,
"cds_start": 698,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.18,
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"acmg_classification": "Uncertain_significance",
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{
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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],
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],
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}