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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: 12-914052-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=914052&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 914052,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_134424.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.1037C>A",
"hgvs_p": "p.Ser346*",
"transcript": "NM_134424.4",
"protein_id": "NP_602296.2",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 418,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358495.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134424.4"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.1037C>A",
"hgvs_p": "p.Ser346*",
"transcript": "ENST00000358495.8",
"protein_id": "ENSP00000351284.3",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 418,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_134424.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358495.8"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.1037C>A",
"hgvs_p": "p.Ser346*",
"transcript": "ENST00000430095.6",
"protein_id": "ENSP00000387901.2",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 418,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430095.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "n.*875C>A",
"hgvs_p": null,
"transcript": "ENST00000461568.5",
"protein_id": "ENSP00000436008.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000461568.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "n.*701C>A",
"hgvs_p": null,
"transcript": "ENST00000543912.5",
"protein_id": "ENSP00000439583.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000543912.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "n.*875C>A",
"hgvs_p": null,
"transcript": "ENST00000461568.5",
"protein_id": "ENSP00000436008.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000461568.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "n.*701C>A",
"hgvs_p": null,
"transcript": "ENST00000543912.5",
"protein_id": "ENSP00000439583.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000543912.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.1052C>A",
"hgvs_p": "p.Ser351*",
"transcript": "ENST00000904782.1",
"protein_id": "ENSP00000574841.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 423,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904782.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.1049C>A",
"hgvs_p": "p.Ser350*",
"transcript": "ENST00000904779.1",
"protein_id": "ENSP00000574838.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 422,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904779.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.1049C>A",
"hgvs_p": "p.Ser350*",
"transcript": "ENST00000952667.1",
"protein_id": "ENSP00000622726.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 422,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952667.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.1037C>A",
"hgvs_p": "p.Ser346*",
"transcript": "NM_001297419.1",
"protein_id": "NP_001284348.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 418,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297419.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.1037C>A",
"hgvs_p": "p.Ser346*",
"transcript": "ENST00000904778.1",
"protein_id": "ENSP00000574837.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 418,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904778.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.1037C>A",
"hgvs_p": "p.Ser346*",
"transcript": "ENST00000904780.1",
"protein_id": "ENSP00000574839.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 418,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904780.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.1034C>A",
"hgvs_p": "p.Ser345*",
"transcript": "ENST00000952666.1",
"protein_id": "ENSP00000622725.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 417,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952666.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Ser312*",
"transcript": "ENST00000904781.1",
"protein_id": "ENSP00000574840.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 384,
"cds_start": 935,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904781.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Ser312*",
"transcript": "ENST00000928981.1",
"protein_id": "ENSP00000599040.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 384,
"cds_start": 935,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928981.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Ser312*",
"transcript": "ENST00000928982.1",
"protein_id": "ENSP00000599041.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 384,
"cds_start": 935,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928982.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Ser312*",
"transcript": "ENST00000952664.1",
"protein_id": "ENSP00000622723.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 384,
"cds_start": 935,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952664.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Ser312*",
"transcript": "ENST00000952665.1",
"protein_id": "ENSP00000622724.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 384,
"cds_start": 935,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952665.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310*",
"transcript": "ENST00000928983.1",
"protein_id": "ENSP00000599042.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 382,
"cds_start": 929,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928983.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.806C>A",
"hgvs_p": "p.Ser269*",
"transcript": "NM_001297421.2",
"protein_id": "NP_001284350.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 341,
"cds_start": 806,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297421.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.1037C>A",
"hgvs_p": "p.Ser346*",
"transcript": "XM_005253720.6",
"protein_id": "XP_005253777.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 418,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253720.6"
},
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"hgvs_c": "n.*823C>A",
"hgvs_p": null,
"transcript": "ENST00000468231.5",
"protein_id": "ENSP00000434703.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000468231.5"
}
],
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"dbsnp": "rs4987207",
"frequency_reference_population": 0.01295627,
"hom_count_reference_population": 251,
"allele_count_reference_population": 20913,
"gnomad_exomes_af": 0.0131967,
"gnomad_genomes_af": 0.0106479,
"gnomad_exomes_ac": 19292,
"gnomad_genomes_ac": 1621,
"gnomad_exomes_homalt": 232,
"gnomad_genomes_homalt": 19,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14000000059604645,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.103,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_134424.4",
"gene_symbol": "RAD52",
"hgnc_id": 9824,
"effects": [
"stop_gained"
],
"inheritance_mode": "",
"hgvs_c": "c.1037C>A",
"hgvs_p": "p.Ser346*"
}
],
"clinvar_disease": "RAD52-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "RAD52-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}