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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: 2-85435802-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85435802&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85435802,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001394463.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.869G>T",
"hgvs_p": "p.Arg290Leu",
"transcript": "NM_001394463.1",
"protein_id": "NP_001381392.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 335,
"cds_start": 869,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": "ENST00000469800.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394463.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.869G>T",
"hgvs_p": "p.Arg290Leu",
"transcript": "ENST00000469800.7",
"protein_id": "ENSP00000510308.1",
"transcript_support_level": 3,
"aa_start": 290,
"aa_end": null,
"aa_length": 335,
"cds_start": 869,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 2222,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.550G>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": 894,
"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": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.*319G>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": 1977,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.*250G>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": 990,
"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": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.*319G>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": 1977,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "n.*250G>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": 990,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000481426.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.947G>T",
"hgvs_p": "p.Arg316Leu",
"transcript": "ENST00000651736.1",
"protein_id": "ENSP00000498488.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 361,
"cds_start": 947,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651736.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.866G>T",
"hgvs_p": "p.Arg289Leu",
"transcript": "ENST00000965156.1",
"protein_id": "ENSP00000635215.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 334,
"cds_start": 866,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 1229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965156.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.899G>T",
"hgvs_p": "p.Arg300Leu",
"transcript": "XM_017003835.2",
"protein_id": "XP_016859324.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 345,
"cds_start": 899,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003835.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.899G>T",
"hgvs_p": "p.Arg300Leu",
"transcript": "XM_017003837.2",
"protein_id": "XP_016859326.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 345,
"cds_start": 899,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 2418,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003837.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.899G>T",
"hgvs_p": "p.Arg300Leu",
"transcript": "XM_017003839.1",
"protein_id": "XP_016859328.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 345,
"cds_start": 899,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003839.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.899G>T",
"hgvs_p": "p.Arg300Leu",
"transcript": "XM_047443969.1",
"protein_id": "XP_047299925.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 345,
"cds_start": 899,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 2651,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443969.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.896G>T",
"hgvs_p": "p.Arg299Leu",
"transcript": "XM_017003840.2",
"protein_id": "XP_016859329.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 344,
"cds_start": 896,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 2647,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003840.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.899G>T",
"hgvs_p": "p.Arg300Leu",
"transcript": "XM_017003841.2",
"protein_id": "XP_016859330.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 342,
"cds_start": 899,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003841.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.869G>T",
"hgvs_p": "p.Arg290Leu",
"transcript": "XM_017003842.2",
"protein_id": "XP_016859331.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 335,
"cds_start": 869,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003842.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.866G>T",
"hgvs_p": "p.Arg289Leu",
"transcript": "XM_011532783.1",
"protein_id": "XP_011531085.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 334,
"cds_start": 866,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532783.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.845G>T",
"hgvs_p": "p.Arg282Leu",
"transcript": "XM_017003843.2",
"protein_id": "XP_016859332.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 327,
"cds_start": 845,
"cds_end": null,
"cds_length": 984,
"cdna_start": 2282,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003843.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.845G>T",
"hgvs_p": "p.Arg282Leu",
"transcript": "XM_017003844.2",
"protein_id": "XP_016859333.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 327,
"cds_start": 845,
"cds_end": null,
"cds_length": 984,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003844.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.845G>T",
"hgvs_p": "p.Arg282Leu",
"transcript": "XM_017003845.2",
"protein_id": "XP_016859334.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 327,
"cds_start": 845,
"cds_end": null,
"cds_length": 984,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003845.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.899G>T",
"hgvs_p": "p.Arg300Leu",
"transcript": "XM_047443971.1",
"protein_id": "XP_047299927.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 319,
"cds_start": 899,
"cds_end": null,
"cds_length": 960,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443971.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D6",
"gene_hgnc_id": 30439,
"hgvs_c": "c.815G>T",
"hgvs_p": "p.Arg272Leu",
"transcript": "XM_017003846.2",
"protein_id": "XP_016859335.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 317,
"cds_start": 815,
"cds_end": null,
"cds_length": 954,
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}
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}