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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: 9-35808534-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35808534&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35808534,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003995.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2738T>C",
"hgvs_p": "p.Met913Thr",
"transcript": "NM_003995.4",
"protein_id": "NP_003986.2",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3556,
"cdna_end": null,
"cdna_length": 4248,
"mane_select": "ENST00000342694.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2738T>C",
"hgvs_p": "p.Met913Thr",
"transcript": "ENST00000342694.7",
"protein_id": "ENSP00000341083.2",
"transcript_support_level": 1,
"aa_start": 913,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3556,
"cdna_end": null,
"cdna_length": 4248,
"mane_select": "NM_003995.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPAG8",
"gene_hgnc_id": 14105,
"hgvs_c": "c.1373-228A>G",
"hgvs_p": null,
"transcript": "ENST00000340291.6",
"protein_id": "ENSP00000340982.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": -4,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPAG8",
"gene_hgnc_id": 14105,
"hgvs_c": "n.*826-228A>G",
"hgvs_p": null,
"transcript": "ENST00000475644.5",
"protein_id": "ENSP00000418530.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2897T>C",
"hgvs_p": "p.Met966Thr",
"transcript": "ENST00000687787.1",
"protein_id": "ENSP00000509440.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 2897,
"cdna_end": null,
"cdna_length": 3561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2828T>C",
"hgvs_p": "p.Met943Thr",
"transcript": "ENST00000693094.1",
"protein_id": "ENSP00000510161.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2822T>C",
"hgvs_p": "p.Met941Thr",
"transcript": "ENST00000690070.1",
"protein_id": "ENSP00000509654.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2822,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 2822,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Met916Thr",
"transcript": "NM_001378923.1",
"protein_id": "NP_001365852.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2747,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 3565,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2666T>C",
"hgvs_p": "p.Met889Thr",
"transcript": "ENST00000685871.1",
"protein_id": "ENSP00000509964.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2666,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 2746,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2591T>C",
"hgvs_p": "p.Met864Thr",
"transcript": "ENST00000687357.1",
"protein_id": "ENSP00000509549.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 998,
"cds_start": 2591,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 2591,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.776T>C",
"hgvs_p": "p.Met259Thr",
"transcript": "ENST00000421267.6",
"protein_id": "ENSP00000399204.2",
"transcript_support_level": 5,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.1343T>C",
"hgvs_p": "p.Met448Thr",
"transcript": "XM_047423431.1",
"protein_id": "XP_047279387.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 582,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.1334T>C",
"hgvs_p": "p.Met445Thr",
"transcript": "XM_024447561.2",
"protein_id": "XP_024303329.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 579,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.2738T>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.134T>C",
"hgvs_p": null,
"transcript": "ENST00000469249.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.2777T>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.1908T>C",
"hgvs_p": null,
"transcript": "ENST00000686486.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.2852T>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.1893T>C",
"hgvs_p": null,
"transcript": "ENST00000687625.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.2695T>C",
"hgvs_p": null,
"transcript": "ENST00000688201.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.2670T>C",
"hgvs_p": null,
"transcript": "ENST00000688226.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.3044T>C",
"hgvs_p": null,
"transcript": "ENST00000688869.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.*1824T>C",
"hgvs_p": null,
"transcript": "ENST00000689788.1",
"protein_id": "ENSP00000508973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"verdict": "Likely_pathogenic",
"transcript": "NM_003995.4",
"gene_symbol": "NPR2",
"hgnc_id": 7944,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2738T>C",
"hgvs_p": "p.Met913Thr"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_172312.2",
"gene_symbol": "SPAG8",
"hgnc_id": 14105,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1373-228A>G",
"hgvs_p": null
}
],
"clinvar_disease": " Maroteaux type,Acromesomelic dysplasia 1,Tall stature-scoliosis-macrodactyly of the great toes syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Acromesomelic dysplasia 1, Maroteaux type;Tall stature-scoliosis-macrodactyly of the great toes syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}