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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: X-150718626-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=150718626&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 150718626,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001353990.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "NM_001306144.3",
"protein_id": "NP_001293073.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 673,
"cds_start": 278,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000445323.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306144.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "ENST00000445323.7",
"protein_id": "ENSP00000414178.2",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 673,
"cds_start": 278,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001306144.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445323.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "ENST00000370390.7",
"protein_id": "ENSP00000359417.3",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 665,
"cds_start": 254,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370390.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "ENST00000542156.5",
"protein_id": "ENSP00000445281.1",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 363,
"cds_start": 254,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542156.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "n.254C>A",
"hgvs_p": null,
"transcript": "ENST00000485376.5",
"protein_id": "ENSP00000434105.1",
"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": "ENST00000485376.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.305C>A",
"hgvs_p": "p.Ala102Asp",
"transcript": "NM_001353990.2",
"protein_id": "NP_001340919.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 682,
"cds_start": 305,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353990.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.305C>A",
"hgvs_p": "p.Ala102Asp",
"transcript": "ENST00000490316.7",
"protein_id": "ENSP00000436957.2",
"transcript_support_level": 3,
"aa_start": 102,
"aa_end": null,
"aa_length": 682,
"cds_start": 305,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490316.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "NM_003828.5",
"protein_id": "NP_003819.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 665,
"cds_start": 254,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003828.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "ENST00000914470.1",
"protein_id": "ENSP00000584529.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 665,
"cds_start": 254,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914470.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "ENST00000914472.1",
"protein_id": "ENSP00000584531.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 627,
"cds_start": 254,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914472.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.278C>A",
"hgvs_p": "p.Ala93Asp",
"transcript": "ENST00000941731.1",
"protein_id": "ENSP00000611790.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 614,
"cds_start": 278,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941731.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "ENST00000914471.1",
"protein_id": "ENSP00000584530.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 606,
"cds_start": 254,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914471.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "ENST00000914473.1",
"protein_id": "ENSP00000584532.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 603,
"cds_start": 254,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914473.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.-29C>A",
"hgvs_p": null,
"transcript": "NM_001353991.1",
"protein_id": "NP_001340920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": null,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353991.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.-29C>A",
"hgvs_p": null,
"transcript": "NM_001353992.1",
"protein_id": "NP_001340921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": null,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353992.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.-29C>A",
"hgvs_p": null,
"transcript": "NM_001353993.1",
"protein_id": "NP_001340922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": null,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353993.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.-29C>A",
"hgvs_p": null,
"transcript": "NM_001353994.1",
"protein_id": "NP_001340923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": null,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353994.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.-29C>A",
"hgvs_p": null,
"transcript": "NM_001353995.1",
"protein_id": "NP_001340924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": null,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353995.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.-29C>A",
"hgvs_p": null,
"transcript": "NM_001353996.1",
"protein_id": "NP_001340925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": null,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353996.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "ENST00000914474.1",
"protein_id": "ENSP00000584533.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 568,
"cds_start": 254,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914474.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "ENST00000914475.1",
"protein_id": "ENSP00000584534.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 544,
"cds_start": 254,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914475.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "NM_001306145.2",
"protein_id": "NP_001293074.1",
"transcript_support_level": null,
"aa_start": 85,
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"revel_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}