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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: 5-140697314-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140697314&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 140697314,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001363535.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Ser",
"transcript": "NM_012208.4",
"protein_id": "NP_036340.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 506,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000230771.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012208.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Ser",
"transcript": "ENST00000230771.9",
"protein_id": "ENSP00000230771.3",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 506,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012208.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230771.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Gly379Ser",
"transcript": "ENST00000926034.1",
"protein_id": "ENSP00000596093.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 516,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926034.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Ser",
"transcript": "NM_001363535.2",
"protein_id": "NP_001350464.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 512,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363535.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Ser",
"transcript": "ENST00000645065.1",
"protein_id": "ENSP00000493571.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 512,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645065.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Ser",
"transcript": "ENST00000646468.1",
"protein_id": "ENSP00000494965.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 512,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646468.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Ser",
"transcript": "ENST00000645749.1",
"protein_id": "ENSP00000494296.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 506,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645749.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Gly358Ser",
"transcript": "ENST00000926031.1",
"protein_id": "ENSP00000596090.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 495,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926031.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Gly344Ser",
"transcript": "NM_001278731.2",
"protein_id": "NP_001265660.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 481,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278731.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Gly344Ser",
"transcript": "ENST00000508522.5",
"protein_id": "ENSP00000423616.1",
"transcript_support_level": 2,
"aa_start": 344,
"aa_end": null,
"aa_length": 481,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508522.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Gly336Ser",
"transcript": "ENST00000642752.1",
"protein_id": "ENSP00000493630.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 473,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642752.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Gly326Ser",
"transcript": "ENST00000926033.1",
"protein_id": "ENSP00000596092.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 463,
"cds_start": 976,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926033.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Gly311Ser",
"transcript": "ENST00000879977.1",
"protein_id": "ENSP00000550036.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 448,
"cds_start": 931,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879977.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Gly299Ser",
"transcript": "NM_001363536.2",
"protein_id": "NP_001350465.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 436,
"cds_start": 895,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363536.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Gly299Ser",
"transcript": "ENST00000642970.1",
"protein_id": "ENSP00000496011.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 436,
"cds_start": 895,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642970.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Gly299Ser",
"transcript": "ENST00000643996.1",
"protein_id": "ENSP00000495350.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 436,
"cds_start": 895,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643996.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.883G>A",
"hgvs_p": "p.Gly295Ser",
"transcript": "ENST00000879976.1",
"protein_id": "ENSP00000550035.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 432,
"cds_start": 883,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879976.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Gly270Ser",
"transcript": "ENST00000943806.1",
"protein_id": "ENSP00000613865.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 407,
"cds_start": 808,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943806.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Gly262Ser",
"transcript": "ENST00000503873.6",
"protein_id": "ENSP00000424516.2",
"transcript_support_level": 3,
"aa_start": 262,
"aa_end": null,
"aa_length": 399,
"cds_start": 784,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503873.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Ser",
"transcript": "ENST00000879978.1",
"protein_id": "ENSP00000550037.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 367,
"cds_start": 688,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879978.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Gly225Ser",
"transcript": "NM_001278732.2",
"protein_id": "NP_001265661.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 362,
"cds_start": 673,
"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_001278732.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000448069.2",
"protein_id": "ENSP00000407105.2",
"transcript_support_level": 2,
"aa_start": 197,
"aa_end": null,
"aa_length": 334,
"cds_start": 589,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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"verdict": "Uncertain_significance",
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"effects": [
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}