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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: 17-43000006-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43000006&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 43000006,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000988.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg",
"transcript": "NM_000988.5",
"protein_id": "NP_000979.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 136,
"cds_start": 155,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253788.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000988.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg",
"transcript": "ENST00000253788.12",
"protein_id": "ENSP00000253788.5",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 136,
"cds_start": 155,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000988.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253788.12"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg",
"transcript": "ENST00000589913.6",
"protein_id": "ENSP00000464813.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 136,
"cds_start": 155,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589913.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Lys82Arg",
"transcript": "ENST00000911442.1",
"protein_id": "ENSP00000581501.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 166,
"cds_start": 245,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911442.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.176A>G",
"hgvs_p": "p.Lys59Arg",
"transcript": "ENST00000586277.5",
"protein_id": "ENSP00000466019.1",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 143,
"cds_start": 176,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586277.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg",
"transcript": "NM_001349921.2",
"protein_id": "NP_001336850.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 136,
"cds_start": 155,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349921.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg",
"transcript": "NM_001349922.2",
"protein_id": "NP_001336851.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 136,
"cds_start": 155,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349922.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg",
"transcript": "ENST00000589037.5",
"protein_id": "ENSP00000467587.1",
"transcript_support_level": 3,
"aa_start": 52,
"aa_end": null,
"aa_length": 136,
"cds_start": 155,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589037.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg",
"transcript": "ENST00000905376.1",
"protein_id": "ENSP00000575435.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 136,
"cds_start": 155,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905376.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg",
"transcript": "ENST00000905377.1",
"protein_id": "ENSP00000575436.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 136,
"cds_start": 155,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905377.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg",
"transcript": "ENST00000911444.1",
"protein_id": "ENSP00000581503.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 136,
"cds_start": 155,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911444.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Lys50Arg",
"transcript": "ENST00000911439.1",
"protein_id": "ENSP00000581498.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 134,
"cds_start": 149,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911439.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg",
"transcript": "ENST00000911443.1",
"protein_id": "ENSP00000581502.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 128,
"cds_start": 155,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911443.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg",
"transcript": "ENST00000911440.1",
"protein_id": "ENSP00000581499.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 126,
"cds_start": 155,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911440.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "c.185+1071A>G",
"hgvs_p": null,
"transcript": "ENST00000911441.1",
"protein_id": "ENSP00000581500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": null,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911441.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "n.*145A>G",
"hgvs_p": null,
"transcript": "ENST00000590864.2",
"protein_id": "ENSP00000467939.2",
"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": "ENST00000590864.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "n.1588A>G",
"hgvs_p": null,
"transcript": "ENST00000593262.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000593262.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "n.*145A>G",
"hgvs_p": null,
"transcript": "ENST00000590864.2",
"protein_id": "ENSP00000467939.2",
"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": "ENST00000590864.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "n.81+1175A>G",
"hgvs_p": null,
"transcript": "ENST00000588830.1",
"protein_id": "ENSP00000468468.1",
"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": "ENST00000588830.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"hgvs_c": "n.136+1175A>G",
"hgvs_p": null,
"transcript": "NR_146327.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_146327.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124904006",
"gene_hgnc_id": null,
"hgvs_c": "n.-73T>C",
"hgvs_p": null,
"transcript": "XR_007065759.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007065759.1"
}
],
"gene_symbol": "RPL27",
"gene_hgnc_id": 10328,
"dbsnp": "rs1422169310",
"frequency_reference_population": 0.0000043414516,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000136969,
"gnomad_genomes_af": 0.0000328554,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40277281403541565,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.1314,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.275,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000988.5",
"gene_symbol": "RPL27",
"hgnc_id": 10328,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007065759.1",
"gene_symbol": "LOC124904006",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-73T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}