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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: 9-16419197-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=16419197&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 16419197,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017637.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3092G>C",
"hgvs_p": "p.Ser1031Thr",
"transcript": "NM_017637.6",
"protein_id": "NP_060107.3",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380672.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017637.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3092G>C",
"hgvs_p": "p.Ser1031Thr",
"transcript": "ENST00000380672.9",
"protein_id": "ENSP00000370047.3",
"transcript_support_level": 2,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017637.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380672.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.*436G>C",
"hgvs_p": null,
"transcript": "ENST00000545497.5",
"protein_id": "ENSP00000444640.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": null,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545497.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.*468G>C",
"hgvs_p": null,
"transcript": "ENST00000411752.5",
"protein_id": "ENSP00000392212.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411752.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3203G>C",
"hgvs_p": "p.Ser1068Thr",
"transcript": "ENST00000863292.1",
"protein_id": "ENSP00000533351.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3203,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863292.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3176G>C",
"hgvs_p": "p.Ser1059Thr",
"transcript": "ENST00000863291.1",
"protein_id": "ENSP00000533350.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1127,
"cds_start": 3176,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863291.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3077G>C",
"hgvs_p": "p.Ser1026Thr",
"transcript": "ENST00000863289.1",
"protein_id": "ENSP00000533348.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863289.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3050G>C",
"hgvs_p": "p.Ser1017Thr",
"transcript": "ENST00000928770.1",
"protein_id": "ENSP00000598829.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1085,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928770.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3002G>C",
"hgvs_p": "p.Ser1001Thr",
"transcript": "ENST00000863290.1",
"protein_id": "ENSP00000533349.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3002,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863290.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.2975G>C",
"hgvs_p": "p.Ser992Thr",
"transcript": "ENST00000863293.1",
"protein_id": "ENSP00000533352.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2975,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863293.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.2891G>C",
"hgvs_p": "p.Ser964Thr",
"transcript": "ENST00000380667.6",
"protein_id": "ENSP00000370042.1",
"transcript_support_level": 5,
"aa_start": 964,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2891,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380667.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.2828G>C",
"hgvs_p": "p.Ser943Thr",
"transcript": "ENST00000700553.1",
"protein_id": "ENSP00000515060.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700553.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.2807G>C",
"hgvs_p": "p.Ser936Thr",
"transcript": "NM_001317940.2",
"protein_id": "NP_001304869.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317940.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3359G>C",
"hgvs_p": "p.Ser1120Thr",
"transcript": "XM_047423480.1",
"protein_id": "XP_047279436.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1188,
"cds_start": 3359,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423480.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Ser1095Thr",
"transcript": "XM_047423481.1",
"protein_id": "XP_047279437.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3284,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423481.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3275G>C",
"hgvs_p": "p.Ser1092Thr",
"transcript": "XM_047423482.1",
"protein_id": "XP_047279438.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423482.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3233G>C",
"hgvs_p": "p.Ser1078Thr",
"transcript": "XM_047423483.1",
"protein_id": "XP_047279439.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3233,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423483.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3218G>C",
"hgvs_p": "p.Ser1073Thr",
"transcript": "XM_047423484.1",
"protein_id": "XP_047279440.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3218,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423484.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3212G>C",
"hgvs_p": "p.Ser1071Thr",
"transcript": "XM_047423485.1",
"protein_id": "XP_047279441.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3212,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423485.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3200G>C",
"hgvs_p": "p.Ser1067Thr",
"transcript": "XM_047423486.1",
"protein_id": "XP_047279442.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3200,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423486.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3176G>C",
"hgvs_p": "p.Ser1059Thr",
"transcript": "XM_047423487.1",
"protein_id": "XP_047279443.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1127,
"cds_start": 3176,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423487.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3158G>C",
"hgvs_p": "p.Ser1053Thr",
"transcript": "XM_047423488.1",
"protein_id": "XP_047279444.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3158,
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Uncertain_significance",
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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",
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"custom_annotations": null
}
],
"message": null
}