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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: 9-35807333-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35807333&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35807333,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001378923.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Val883Met",
"transcript": "NM_003995.4",
"protein_id": "NP_003986.2",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2647,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342694.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003995.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Val883Met",
"transcript": "ENST00000342694.7",
"protein_id": "ENSP00000341083.2",
"transcript_support_level": 1,
"aa_start": 883,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2647,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003995.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342694.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2806G>A",
"hgvs_p": "p.Val936Met",
"transcript": "ENST00000687787.1",
"protein_id": "ENSP00000509440.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2806,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687787.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2758G>A",
"hgvs_p": "p.Val920Met",
"transcript": "ENST00000964862.1",
"protein_id": "ENSP00000634921.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2758,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964862.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2737G>A",
"hgvs_p": "p.Val913Met",
"transcript": "ENST00000693094.1",
"protein_id": "ENSP00000510161.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2737,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693094.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2731G>A",
"hgvs_p": "p.Val911Met",
"transcript": "ENST00000690070.1",
"protein_id": "ENSP00000509654.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690070.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2671G>A",
"hgvs_p": "p.Val891Met",
"transcript": "ENST00000893534.1",
"protein_id": "ENSP00000563593.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2671,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893534.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2656G>A",
"hgvs_p": "p.Val886Met",
"transcript": "NM_001378923.1",
"protein_id": "NP_001365852.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2656,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378923.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2656G>A",
"hgvs_p": "p.Val886Met",
"transcript": "ENST00000893533.1",
"protein_id": "ENSP00000563592.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2656,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893533.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Val883Met",
"transcript": "ENST00000914728.1",
"protein_id": "ENSP00000584787.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2647,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914728.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2575G>A",
"hgvs_p": "p.Val859Met",
"transcript": "ENST00000685871.1",
"protein_id": "ENSP00000509964.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685871.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Val858Met",
"transcript": "ENST00000893536.1",
"protein_id": "ENSP00000563595.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893536.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.2647G>A",
"hgvs_p": "p.Val883Met",
"transcript": "ENST00000964863.1",
"protein_id": "ENSP00000634922.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2647,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964863.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2575G>A",
"hgvs_p": "p.Val859Met",
"transcript": "ENST00000964864.1",
"protein_id": "ENSP00000634923.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964864.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2500G>A",
"hgvs_p": "p.Val834Met",
"transcript": "ENST00000687357.1",
"protein_id": "ENSP00000509549.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 998,
"cds_start": 2500,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687357.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.2437G>A",
"hgvs_p": "p.Val813Met",
"transcript": "ENST00000893535.1",
"protein_id": "ENSP00000563594.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 977,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893535.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Val229Met",
"transcript": "ENST00000421267.6",
"protein_id": "ENSP00000399204.2",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 393,
"cds_start": 685,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421267.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Val418Met",
"transcript": "XM_047423431.1",
"protein_id": "XP_047279387.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 582,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423431.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Val415Met",
"transcript": "XM_024447561.2",
"protein_id": "XP_024303329.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 579,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447561.2"
},
{
"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.2647G>A",
"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": null,
"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": [
"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.2647G>A",
"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": null,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPR2",
"gene_hgnc_id": 7944,
"hgvs_c": "n.2686G>A",
"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,
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}
],
"clinvar_disease": "Tall stature-scoliosis-macrodactyly of the great toes syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Tall stature-scoliosis-macrodactyly of the great toes syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}