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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: 9-35793897-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35793897&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35793897,
"ref": "G",
"alt": "C",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_001378923.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "NM_003995.4",
"protein_id": "NP_003986.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": null,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4248,
"mane_select": "ENST00000342694.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003995.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000342694.7",
"protein_id": "ENSP00000341083.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": null,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4248,
"mane_select": "NM_003995.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342694.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000687787.1",
"protein_id": "ENSP00000509440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1100,
"cds_start": null,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000964862.1",
"protein_id": "ENSP00000634921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": null,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964862.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000693094.1",
"protein_id": "ENSP00000510161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1077,
"cds_start": null,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693094.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000690070.1",
"protein_id": "ENSP00000509654.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1075,
"cds_start": null,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690070.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000893534.1",
"protein_id": "ENSP00000563593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1055,
"cds_start": null,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893534.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "NM_001378923.1",
"protein_id": "NP_001365852.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1050,
"cds_start": null,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378923.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000893533.1",
"protein_id": "ENSP00000563592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1050,
"cds_start": null,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893533.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000914728.1",
"protein_id": "ENSP00000584787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": null,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000685871.1",
"protein_id": "ENSP00000509964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1023,
"cds_start": null,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685871.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000893536.1",
"protein_id": "ENSP00000563595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1022,
"cds_start": null,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893536.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000964863.1",
"protein_id": "ENSP00000634922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1003,
"cds_start": null,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964863.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000964864.1",
"protein_id": "ENSP00000634923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1002,
"cds_start": null,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964864.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000687357.1",
"protein_id": "ENSP00000509549.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": null,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
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"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687357.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.449-1G>C",
"hgvs_p": null,
"transcript": "ENST00000893535.1",
"protein_id": "ENSP00000563594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": null,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893535.1"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.1489G>C",
"hgvs_p": null,
"transcript": "ENST00000692447.1",
"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": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000692447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000448821.6",
"protein_id": "ENSP00000402902.2",
"transcript_support_level": 3,
"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": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448821.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.668-1G>C",
"hgvs_p": null,
"transcript": "ENST00000464810.5",
"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": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464810.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.707-1G>C",
"hgvs_p": null,
"transcript": "ENST00000686159.1",
"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": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000686159.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.529-1G>C",
"hgvs_p": null,
"transcript": "ENST00000687302.1",
"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": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000687302.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.164+2731G>C",
"hgvs_p": null,
"transcript": "ENST00000687625.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely pathogenic",
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}
],
"message": null
}