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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: 2-85436544-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85436544&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85436544,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001394463.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Trp",
"transcript": "NM_001394463.1",
"protein_id": "NP_001381392.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 335,
"cds_start": 970,
"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": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Trp",
"transcript": "ENST00000469800.7",
"protein_id": "ENSP00000510308.1",
"transcript_support_level": 3,
"aa_start": 324,
"aa_end": null,
"aa_length": 335,
"cds_start": 970,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.651C>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": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.*420C>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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.*343C>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": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.*420C>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": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.*343C>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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Arg350Trp",
"transcript": "ENST00000651736.1",
"protein_id": "ENSP00000498488.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 361,
"cds_start": 1048,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "ENST00000965156.1",
"protein_id": "ENSP00000635215.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 334,
"cds_start": 967,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334Trp",
"transcript": "XM_017003835.2",
"protein_id": "XP_016859324.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 345,
"cds_start": 1000,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334Trp",
"transcript": "XM_017003837.2",
"protein_id": "XP_016859326.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 345,
"cds_start": 1000,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334Trp",
"transcript": "XM_017003839.1",
"protein_id": "XP_016859328.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 345,
"cds_start": 1000,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334Trp",
"transcript": "XM_047443969.1",
"protein_id": "XP_047299925.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 345,
"cds_start": 1000,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Trp",
"transcript": "XM_017003840.2",
"protein_id": "XP_016859329.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 344,
"cds_start": 997,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Trp",
"transcript": "XM_017003842.2",
"protein_id": "XP_016859331.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 335,
"cds_start": 970,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "XM_011532783.1",
"protein_id": "XP_011531085.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 334,
"cds_start": 967,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316Trp",
"transcript": "XM_017003843.2",
"protein_id": "XP_016859332.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 327,
"cds_start": 946,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316Trp",
"transcript": "XM_017003844.2",
"protein_id": "XP_016859333.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 327,
"cds_start": 946,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316Trp",
"transcript": "XM_017003845.2",
"protein_id": "XP_016859334.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 327,
"cds_start": 946,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306Trp",
"transcript": "XM_017003846.2",
"protein_id": "XP_016859335.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 317,
"cds_start": 916,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306Trp",
"transcript": "XM_017003847.2",
"protein_id": "XP_016859336.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 317,
"cds_start": 916,
"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_017003847.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Trp",
"transcript": "XM_017003848.2",
"protein_id": "XP_016859337.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 316,
"cds_start": 913,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.378,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"benign_score": 2,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001394463.1",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}