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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: 1-93264899-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=93264899&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 93264899,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001378204.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3883A>G",
"hgvs_p": "p.Lys1295Glu",
"transcript": "NM_001378204.1",
"protein_id": "NP_001365133.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000690025.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378204.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3883A>G",
"hgvs_p": "p.Lys1295Glu",
"transcript": "ENST00000690025.1",
"protein_id": "ENSP00000510597.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378204.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690025.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3883A>G",
"hgvs_p": "p.Lys1295Glu",
"transcript": "ENST00000401026.7",
"protein_id": "ENSP00000383808.3",
"transcript_support_level": 1,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3883,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401026.7"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "n.639A>G",
"hgvs_p": null,
"transcript": "ENST00000447456.1",
"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": "ENST00000447456.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3691A>G",
"hgvs_p": "p.Lys1231Glu",
"transcript": "XM_047419520.1",
"protein_id": "XP_047275476.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3691,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419520.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3883A>G",
"hgvs_p": "p.Lys1295Glu",
"transcript": "ENST00000935053.1",
"protein_id": "ENSP00000605112.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935053.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3883A>G",
"hgvs_p": "p.Lys1295Glu",
"transcript": "ENST00000935055.1",
"protein_id": "ENSP00000605114.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935055.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3880A>G",
"hgvs_p": "p.Lys1294Glu",
"transcript": "NM_001306076.1",
"protein_id": "NP_001293005.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3880,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306076.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3880A>G",
"hgvs_p": "p.Lys1294Glu",
"transcript": "ENST00000343253.11",
"protein_id": "ENSP00000343377.7",
"transcript_support_level": 5,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3880,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343253.11"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3880A>G",
"hgvs_p": "p.Lys1294Glu",
"transcript": "ENST00000370276.6",
"protein_id": "ENSP00000359299.2",
"transcript_support_level": 5,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3880,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370276.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3835A>G",
"hgvs_p": "p.Lys1279Glu",
"transcript": "ENST00000935054.1",
"protein_id": "ENSP00000605113.1",
"transcript_support_level": null,
"aa_start": 1279,
"aa_end": null,
"aa_length": 1439,
"cds_start": 3835,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935054.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3883A>G",
"hgvs_p": "p.Lys1295Glu",
"transcript": "NM_206886.4",
"protein_id": "NP_996769.3",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3883,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206886.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3883A>G",
"hgvs_p": "p.Lys1295Glu",
"transcript": "ENST00000935051.1",
"protein_id": "ENSP00000605110.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3883,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935051.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3883A>G",
"hgvs_p": "p.Lys1295Glu",
"transcript": "ENST00000935052.1",
"protein_id": "ENSP00000605111.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3883,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935052.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3880A>G",
"hgvs_p": "p.Lys1294Glu",
"transcript": "ENST00000956829.1",
"protein_id": "ENSP00000626888.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3880,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956829.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3751A>G",
"hgvs_p": "p.Lys1251Glu",
"transcript": "ENST00000956828.1",
"protein_id": "ENSP00000626887.1",
"transcript_support_level": null,
"aa_start": 1251,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3751,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956828.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3883A>G",
"hgvs_p": "p.Lys1295Glu",
"transcript": "XM_017001154.3",
"protein_id": "XP_016856643.2",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001154.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3883A>G",
"hgvs_p": "p.Lys1295Glu",
"transcript": "XM_017001156.3",
"protein_id": "XP_016856645.2",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001156.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3883A>G",
"hgvs_p": "p.Lys1295Glu",
"transcript": "XM_017001162.3",
"protein_id": "XP_016856651.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001162.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3883A>G",
"hgvs_p": "p.Lys1295Glu",
"transcript": "XM_017001164.3",
"protein_id": "XP_016856653.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001164.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3880A>G",
"hgvs_p": "p.Lys1294Glu",
"transcript": "XM_017001155.3",
"protein_id": "XP_016856644.2",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3880,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001155.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
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"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.01,
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"phylop100way_prediction": "Uncertain_significance",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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{
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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{
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"verdict": "Uncertain_significance",
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],
"inheritance_mode": "",
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}
],
"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
}