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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: 17-35930144-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35930144&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35930144,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_145654.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Ala70Ser",
"transcript": "NM_145654.4",
"protein_id": "NP_663629.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 284,
"cds_start": 208,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000620284.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145654.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Ala70Ser",
"transcript": "ENST00000620284.5",
"protein_id": "ENSP00000483549.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 284,
"cds_start": 208,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145654.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620284.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Ala47Ser",
"transcript": "ENST00000619262.4",
"protein_id": "ENSP00000479310.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 261,
"cds_start": 139,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619262.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Ala70Ser",
"transcript": "ENST00000616596.4",
"protein_id": "ENSP00000478915.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 251,
"cds_start": 208,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616596.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Ala47Ser",
"transcript": "ENST00000619828.4",
"protein_id": "ENSP00000483933.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 228,
"cds_start": 139,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619828.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Ala70Ser",
"transcript": "ENST00000612980.4",
"protein_id": "ENSP00000483387.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 166,
"cds_start": 208,
"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": "ENST00000612980.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Ala47Ser",
"transcript": "ENST00000617591.4",
"protein_id": "ENSP00000479622.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 143,
"cds_start": 139,
"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": "ENST00000617591.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "n.139G>T",
"hgvs_p": null,
"transcript": "ENST00000615024.4",
"protein_id": "ENSP00000481648.1",
"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": "ENST00000615024.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "n.208G>T",
"hgvs_p": null,
"transcript": "ENST00000615288.4",
"protein_id": "ENSP00000477869.1",
"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": "ENST00000615288.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "n.139G>T",
"hgvs_p": null,
"transcript": "ENST00000618511.4",
"protein_id": "ENSP00000477995.1",
"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": "ENST00000618511.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "n.208G>T",
"hgvs_p": null,
"transcript": "ENST00000619193.4",
"protein_id": "ENSP00000482981.1",
"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": "ENST00000619193.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "n.96+488G>T",
"hgvs_p": null,
"transcript": "ENST00000619368.4",
"protein_id": "ENSP00000478131.1",
"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": "ENST00000619368.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Ala47Ser",
"transcript": "NM_001163130.1",
"protein_id": "NP_001156602.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 261,
"cds_start": 139,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163130.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Ala70Ser",
"transcript": "NM_001163121.2",
"protein_id": "NP_001156593.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 251,
"cds_start": 208,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163121.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Ala70Ser",
"transcript": "NM_001034836.2",
"protein_id": "NP_001030008.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 236,
"cds_start": 208,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001034836.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Ala70Ser",
"transcript": "ENST00000613308.4",
"protein_id": "ENSP00000482288.1",
"transcript_support_level": 3,
"aa_start": 70,
"aa_end": null,
"aa_length": 236,
"cds_start": 208,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613308.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Ala47Ser",
"transcript": "NM_001163122.1",
"protein_id": "NP_001156594.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 228,
"cds_start": 139,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163122.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Ala47Ser",
"transcript": "ENST00000619876.4",
"protein_id": "ENSP00000483890.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 213,
"cds_start": 139,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619876.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Ala70Ser",
"transcript": "NM_001163120.2",
"protein_id": "NP_001156592.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 166,
"cds_start": 208,
"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": "NM_001163120.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Ala47Ser",
"transcript": "NM_001163124.1",
"protein_id": "NP_001156596.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 143,
"cds_start": 139,
"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": "NM_001163124.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Ala70Ser",
"transcript": "NM_001330194.2",
"protein_id": "NP_001317123.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 139,
"cds_start": 208,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330194.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Ala47Ser",
"transcript": "NM_001163125.1",
"protein_id": "NP_001156597.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 116,
"cds_start": 139,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163125.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_145654.4",
"gene_symbol": "RDM1",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}