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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: 2-85435077-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85435077&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85435077,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001394463.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Ser201Leu",
"transcript": "NM_001394463.1",
"protein_id": "NP_001381392.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 335,
"cds_start": 602,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000469800.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394463.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Ser201Leu",
"transcript": "ENST00000469800.7",
"protein_id": "ENSP00000510308.1",
"transcript_support_level": 3,
"aa_start": 201,
"aa_end": null,
"aa_length": 335,
"cds_start": 602,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394463.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469800.7"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.283C>T",
"hgvs_p": null,
"transcript": "ENST00000340326.2",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000340326.2"
},
{
"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": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.*136C>T",
"hgvs_p": null,
"transcript": "ENST00000389938.7",
"protein_id": "ENSP00000374588.3",
"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": "ENST00000389938.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.493C>T",
"hgvs_p": null,
"transcript": "ENST00000481426.6",
"protein_id": "ENSP00000498555.1",
"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": "ENST00000481426.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.*136C>T",
"hgvs_p": null,
"transcript": "ENST00000389938.7",
"protein_id": "ENSP00000374588.3",
"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": "ENST00000389938.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Ser227Leu",
"transcript": "ENST00000651736.1",
"protein_id": "ENSP00000498488.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 361,
"cds_start": 680,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651736.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Leu",
"transcript": "ENST00000965156.1",
"protein_id": "ENSP00000635215.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 334,
"cds_start": 599,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965156.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Ser211Leu",
"transcript": "XM_017003835.2",
"protein_id": "XP_016859324.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 345,
"cds_start": 632,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003835.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Ser211Leu",
"transcript": "XM_017003837.2",
"protein_id": "XP_016859326.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 345,
"cds_start": 632,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003837.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Ser211Leu",
"transcript": "XM_017003839.1",
"protein_id": "XP_016859328.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 345,
"cds_start": 632,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003839.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Ser211Leu",
"transcript": "XM_047443969.1",
"protein_id": "XP_047299925.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 345,
"cds_start": 632,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443969.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Ser210Leu",
"transcript": "XM_017003840.2",
"protein_id": "XP_016859329.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 344,
"cds_start": 629,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003840.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Ser211Leu",
"transcript": "XM_017003841.2",
"protein_id": "XP_016859330.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 342,
"cds_start": 632,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003841.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Ser201Leu",
"transcript": "XM_017003842.2",
"protein_id": "XP_016859331.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 335,
"cds_start": 602,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003842.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ser200Leu",
"transcript": "XM_011532783.1",
"protein_id": "XP_011531085.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 334,
"cds_start": 599,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532783.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Leu",
"transcript": "XM_017003843.2",
"protein_id": "XP_016859332.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 327,
"cds_start": 578,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003843.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Leu",
"transcript": "XM_017003844.2",
"protein_id": "XP_016859333.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 327,
"cds_start": 578,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003844.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Leu",
"transcript": "XM_017003845.2",
"protein_id": "XP_016859334.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 327,
"cds_start": 578,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003845.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Ser211Leu",
"transcript": "XM_047443971.1",
"protein_id": "XP_047299927.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 319,
"cds_start": 632,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443971.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Ser183Leu",
"transcript": "XM_017003846.2",
"protein_id": "XP_016859335.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 317,
"cds_start": 548,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003846.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Ser211Leu",
"transcript": "XM_017003847.2",
"protein_id": "XP_016859336.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 317,
"cds_start": 632,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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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
}