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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: 5-72223848-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=72223848&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "MRPS27",
"hgnc_id": 14512,
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Leu294Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001286748.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 2172,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "5",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 414,
"aa_ref": "L",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 859,
"cds_end": null,
"cds_length": 1245,
"cds_start": 840,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_015084.3",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Leu280Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261413.10",
"protein_coding": true,
"protein_id": "NP_055899.2",
"strand": false,
"transcript": "NM_015084.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 414,
"aa_ref": "L",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 859,
"cds_end": null,
"cds_length": 1245,
"cds_start": 840,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000261413.10",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Leu280Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015084.3",
"protein_coding": true,
"protein_id": "ENSP00000261413.5",
"strand": false,
"transcript": "ENST00000261413.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 832,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000522562.5",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "n.*268C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000511937.1",
"strand": false,
"transcript": "ENST00000522562.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 832,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000522562.5",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "n.*268C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000511937.1",
"strand": false,
"transcript": "ENST00000522562.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "L",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1383,
"cds_start": 840,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000695404.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Leu280Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511886.1",
"strand": false,
"transcript": "ENST00000695404.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 436,
"aa_ref": "L",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2811,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1311,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000694998.2",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Leu302Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511636.2",
"strand": false,
"transcript": "ENST00000694998.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 429,
"aa_ref": "L",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1290,
"cds_start": 885,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926538.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Leu295Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596597.1",
"strand": false,
"transcript": "ENST00000926538.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 428,
"aa_ref": "L",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1287,
"cds_start": 882,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001286748.2",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Leu294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273677.1",
"strand": false,
"transcript": "NM_001286748.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 428,
"aa_ref": "L",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 918,
"cds_end": null,
"cds_length": 1287,
"cds_start": 882,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000513900.6",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Leu294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426941.1",
"strand": false,
"transcript": "ENST00000513900.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "L",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1260,
"cds_start": 855,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000953797.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.855C>T",
"hgvs_p": "p.Leu285Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623856.1",
"strand": false,
"transcript": "ENST00000953797.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 414,
"aa_ref": "L",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7518,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1245,
"cds_start": 840,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000694989.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Leu280Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511631.1",
"strand": false,
"transcript": "ENST00000694989.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 414,
"aa_ref": "L",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7716,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 1245,
"cds_start": 840,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000694990.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Leu280Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511632.1",
"strand": false,
"transcript": "ENST00000694990.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 401,
"aa_ref": "L",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 823,
"cds_end": null,
"cds_length": 1206,
"cds_start": 801,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000695403.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.801C>T",
"hgvs_p": "p.Leu267Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511885.1",
"strand": false,
"transcript": "ENST00000695403.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 395,
"aa_ref": "L",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1188,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000694994.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.783C>T",
"hgvs_p": "p.Leu261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511933.1",
"strand": false,
"transcript": "ENST00000694994.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 388,
"aa_ref": "L",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2662,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1167,
"cds_start": 762,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000695298.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Leu254Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511790.1",
"strand": false,
"transcript": "ENST00000695298.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 373,
"aa_ref": "L",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1122,
"cds_start": 717,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000694995.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.717C>T",
"hgvs_p": "p.Leu239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511935.1",
"strand": false,
"transcript": "ENST00000694995.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "L",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2738,
"cdna_start": 827,
"cds_end": null,
"cds_length": 1077,
"cds_start": 672,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001286751.2",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Leu224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273680.1",
"strand": false,
"transcript": "NM_001286751.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "L",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 929,
"cds_end": null,
"cds_length": 1077,
"cds_start": 672,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000457646.9",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Leu224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428120.2",
"strand": false,
"transcript": "ENST00000457646.9",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "L",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3036,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 1077,
"cds_start": 672,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000519143.6",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Leu224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511934.1",
"strand": false,
"transcript": "ENST00000519143.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "L",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3289,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 1077,
"cds_start": 672,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000694996.2",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Leu224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511936.1",
"strand": false,
"transcript": "ENST00000694996.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 298,
"aa_ref": "L",
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