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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: 16-370043-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=370043&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MRPL28",
"hgnc_id": 14484,
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_006428.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1476,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13768503069877625,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 256,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1524,
"cdna_start": 223,
"cds_end": null,
"cds_length": 771,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_006428.5",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000199706.13",
"protein_coding": true,
"protein_id": "NP_006419.2",
"strand": false,
"transcript": "NM_006428.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 256,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1524,
"cdna_start": 223,
"cds_end": null,
"cds_length": 771,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000199706.13",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006428.5",
"protein_coding": true,
"protein_id": "ENSP00000199706.7",
"strand": false,
"transcript": "ENST00000199706.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000469744.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "n.192G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000469744.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000483764.5",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "n.194G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000483764.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 259,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1127,
"cdna_start": 232,
"cds_end": null,
"cds_length": 780,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933146.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603205.1",
"strand": false,
"transcript": "ENST00000933146.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 256,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 865,
"cdna_start": 208,
"cds_end": null,
"cds_length": 771,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000389675.6",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374326.2",
"strand": false,
"transcript": "ENST00000389675.6",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 256,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1707,
"cdna_start": 406,
"cds_end": null,
"cds_length": 771,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000648346.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497004.1",
"strand": false,
"transcript": "ENST00000648346.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 256,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1092,
"cdna_start": 215,
"cds_end": null,
"cds_length": 771,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000875018.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545077.1",
"strand": false,
"transcript": "ENST00000875018.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 256,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1107,
"cdna_start": 233,
"cds_end": null,
"cds_length": 771,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000875019.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545078.1",
"strand": false,
"transcript": "ENST00000875019.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 256,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1181,
"cdna_start": 303,
"cds_end": null,
"cds_length": 771,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000875020.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545079.1",
"strand": false,
"transcript": "ENST00000875020.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 256,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2607,
"cdna_start": 253,
"cds_end": null,
"cds_length": 771,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933144.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603203.1",
"strand": false,
"transcript": "ENST00000933144.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 256,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": 293,
"cds_end": null,
"cds_length": 771,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933145.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603204.1",
"strand": false,
"transcript": "ENST00000933145.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 256,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1115,
"cdna_start": 229,
"cds_end": null,
"cds_length": 771,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933150.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603209.1",
"strand": false,
"transcript": "ENST00000933150.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 256,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1096,
"cdna_start": 212,
"cds_end": null,
"cds_length": 771,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933153.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603212.1",
"strand": false,
"transcript": "ENST00000933153.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 253,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1088,
"cdna_start": 212,
"cds_end": null,
"cds_length": 762,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000875015.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545074.1",
"strand": false,
"transcript": "ENST00000875015.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 253,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1072,
"cdna_start": 207,
"cds_end": null,
"cds_length": 762,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000875017.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545076.1",
"strand": false,
"transcript": "ENST00000875017.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 253,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1067,
"cdna_start": 202,
"cds_end": null,
"cds_length": 762,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933147.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603206.1",
"strand": false,
"transcript": "ENST00000933147.1",
"transcript_support_level": null
},
{
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"aa_length": 253,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1095,
"cdna_start": 230,
"cds_end": null,
"cds_length": 762,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933148.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603207.1",
"strand": false,
"transcript": "ENST00000933148.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 253,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1126,
"cdna_start": 249,
"cds_end": null,
"cds_length": 762,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933149.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603208.1",
"strand": false,
"transcript": "ENST00000933149.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 253,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1094,
"cdna_start": 219,
"cds_end": null,
"cds_length": 762,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933151.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603210.1",
"strand": false,
"transcript": "ENST00000933151.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 249,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1064,
"cdna_start": 211,
"cds_end": null,
"cds_length": 750,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000875016.1",
"gene_hgnc_id": 14484,
"gene_symbol": "MRPL28",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545075.1",
"strand": false,
"transcript": "ENST00000875016.1",
"transcript_support_level": null
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