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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: 19-422282-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=422282&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 422282,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_012435.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1484G>T",
"hgvs_p": "p.Arg495Leu",
"transcript": "NM_012435.3",
"protein_id": "NP_036567.2",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 582,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": "ENST00000264554.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012435.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1484G>T",
"hgvs_p": "p.Arg495Leu",
"transcript": "ENST00000264554.11",
"protein_id": "ENSP00000264554.4",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 582,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": "NM_012435.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264554.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "n.547G>T",
"hgvs_p": null,
"transcript": "ENST00000588376.5",
"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": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000588376.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1562G>T",
"hgvs_p": "p.Arg521Leu",
"transcript": "ENST00000945174.1",
"protein_id": "ENSP00000615233.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 608,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945174.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1559G>T",
"hgvs_p": "p.Arg520Leu",
"transcript": "ENST00000945166.1",
"protein_id": "ENSP00000615225.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 607,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945166.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1532G>T",
"hgvs_p": "p.Arg511Leu",
"transcript": "ENST00000945164.1",
"protein_id": "ENSP00000615223.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 598,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945164.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1511G>T",
"hgvs_p": "p.Arg504Leu",
"transcript": "ENST00000945167.1",
"protein_id": "ENSP00000615226.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 591,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945167.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1484G>T",
"hgvs_p": "p.Arg495Leu",
"transcript": "ENST00000945169.1",
"protein_id": "ENSP00000615228.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 582,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945169.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1484G>T",
"hgvs_p": "p.Arg495Leu",
"transcript": "ENST00000945175.1",
"protein_id": "ENSP00000615234.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 582,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945175.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1484G>T",
"hgvs_p": "p.Arg495Leu",
"transcript": "ENST00000945172.1",
"protein_id": "ENSP00000615231.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 581,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945172.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1451G>T",
"hgvs_p": "p.Arg484Leu",
"transcript": "ENST00000945165.1",
"protein_id": "ENSP00000615224.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 571,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945165.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1430G>T",
"hgvs_p": "p.Arg477Leu",
"transcript": "ENST00000945171.1",
"protein_id": "ENSP00000615230.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 564,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945171.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1424G>T",
"hgvs_p": "p.Arg475Leu",
"transcript": "ENST00000945170.1",
"protein_id": "ENSP00000615229.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 562,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945170.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "NM_001387056.1",
"protein_id": "NP_001373985.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 537,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387056.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "ENST00000939515.1",
"protein_id": "ENSP00000609574.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 537,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939515.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1094G>T",
"hgvs_p": "p.Arg365Leu",
"transcript": "ENST00000945168.1",
"protein_id": "ENSP00000615227.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 452,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945168.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.947G>T",
"hgvs_p": "p.Arg316Leu",
"transcript": "ENST00000945173.1",
"protein_id": "ENSP00000615232.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 403,
"cds_start": 947,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945173.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1484G>T",
"hgvs_p": "p.Arg495Leu",
"transcript": "XM_011527893.4",
"protein_id": "XP_011526195.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 594,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527893.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1349G>T",
"hgvs_p": "p.Arg450Leu",
"transcript": "XM_011527894.3",
"protein_id": "XP_011526196.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 549,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527894.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1013G>T",
"hgvs_p": "p.Arg338Leu",
"transcript": "XM_011527896.3",
"protein_id": "XP_011526198.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 437,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527896.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "c.1013G>T",
"hgvs_p": "p.Arg338Leu",
"transcript": "XM_047438565.1",
"protein_id": "XP_047294521.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 437,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438565.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "n.*7G>T",
"hgvs_p": null,
"transcript": "ENST00000590170.3",
"protein_id": "ENSP00000465764.3",
"transcript_support_level": 5,
"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": 816,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590170.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"hgvs_c": "n.*7G>T",
"hgvs_p": null,
"transcript": "ENST00000590170.3",
"protein_id": "ENSP00000465764.3",
"transcript_support_level": 5,
"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": 816,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590170.3"
}
],
"gene_symbol": "SHC2",
"gene_hgnc_id": 29869,
"dbsnp": "rs1270213353",
"frequency_reference_population": 6.849531e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84953e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8631500005722046,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.616,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4677,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.126,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012435.3",
"gene_symbol": "SHC2",
"hgnc_id": 29869,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1484G>T",
"hgvs_p": "p.Arg495Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}